bluuebunny/crossref_metadata_2025 huggingface dataset:
An Integrated View of Virus-Triggered Cellular Plasticity Using Boolean Networks
Authors: Alfaro-García Jenny Paola , Granados-Alzate María Camila , Vicente-Manzanares Miguel , Gallego-Gómez Juan Carlos
Published: October 2021

Virus-related mortality and morbidity are due to cell/tissue damage caused by replicative pressure and resource exhaustion, e.g., HBV or HIV; exaggerated immune responses, e.g., SARS-CoV-2; and cancer, e.g., EBV or HPV. In this context, oncogenic and other types of viruses drive genetic and epigenetic changes that expand the tumorigenic program, including modifications to the ability of cancer cells to migrate. The best-characterized group of changes is collectively known as the epithelial–mesenchymal transition, or EMT. This is a complex phenomenon classically described using biochemistry, cell biology and genetics. However, these methods require enormous, often slow, efforts to identify and validate novel therapeutic targets. Systems biology can complement and accelerate discoveries in this field. One example of such an approach is Boolean networks, which make complex biological problems tractable by modeling data (“nodes”) connected by logical operators. Here, we focus on virus-induced cellular plasticity and cell reprogramming in mammals, and how Boolean networks could provide novel insights into the ability of some viruses to trigger uncontrolled cell proliferation and EMT, two key hallmarks of cancer.
Cathepsin K Regulates Intraocular Pressure by Modulating Extracellular Matrix Remodeling and Actin-Bundling in the Trabecular Meshwork Outflow Pathway
Authors: Soundararajan Avinash , Ghag Sachin Anil , Vuda Sai Supriya , Wang Ting , Pattabiraman Padmanabhan Paranji
Published: October 2021

The homeostasis of extracellular matrix (ECM) and actin dynamics in the trabecular meshwork (TM) outflow pathway plays a critical role in intraocular pressure (IOP) regulation. We studied the role of cathepsin K (CTSK), a lysosomal cysteine protease and a potent collagenase, on ECM modulation and actin cytoskeleton rearrangements in the TM outflow pathway and the regulation of IOP. Initially, we found that CTSK was negatively regulated by pathological stressors known to elevate IOP. Further, inactivating CTSK using balicatib, a pharmacological cell-permeable inhibitor of CTSK, resulted in IOP elevation due to increased levels and excessive deposition of ECM-like collagen-1A in the TM outflow pathway. The loss of CTSK activity resulted in actin-bundling via fascin and vinculin reorganization and by inhibiting actin depolymerization via phospho-cofilin. Contrarily, constitutive expression of CTSK decreased ECM and increased actin depolymerization by decreasing phospho-cofilin, negatively regulated the availability of active TGFβ2, and reduced the levels of alpha-smooth muscle actin (αSMA), indicating an antifibrotic action of CTSK. In conclusion, these observations, for the first time, demonstrate the significance of CTSK in IOP regulation by maintaining the ECM homeostasis and actin cytoskeleton-mediated contractile properties of the TM outflow pathway.
TMEM16A/ANO1: Current Strategies and Novel Drug Approaches for Cystic Fibrosis
Authors: Mitri Christie , Sharma Himanshu , Corvol Harriet , Tabary Olivier
Published: October 2021

Cystic fibrosis (CF) is the most common of rare hereditary diseases in Caucasians, and it is estimated to affect 75,000 patients globally. CF is a complex disease due to the multiplicity of mutations found in the CF transmembrane conductance regulator (CFTR) gene causing the CFTR protein to become dysfunctional. Correctors and potentiators have demonstrated good clinical outcomes for patients with specific gene mutations; however, there are still patients for whom those treatments are not suitable and require alternative CFTR-independent strategies. Although CFTR is the main chloride channel in the lungs, others could, e.g., anoctamin-1 (ANO1 or TMEM16A), compensate for the deficiency of CFTR. This review summarizes the current knowledge on calcium-activated chloride channel (CaCC) ANO1 and presents ANO1 as an exciting target in CF.
The Effect of Heat Treatment on the Microstructure and Phase Composition of Plasma Sprayed Al2O3 and Al2O3-TiO2 Coatings for Applications in Biomass Firing Plants
Authors: Šuopys Airingas , Marcinauskas Liutauras , Grigaitienė Viktorija , Kėželis Romualdas , Aikas Mindaugas , Uscila Rolandas , Tučkutė Simona , Lelis Martynas
Published: October 2021

This study presents the thermal and chemical resistance of plasma-sprayed Al2O3 and Al2O3 doped with 13 wt.% of TiO2 coatings and their suitability for the fire grate of straw pellet furnaces. Coatings were deposited on steel substrates using direct current atmospheric pressure plasma spraying. The surface structure, elemental, and phase composition of formed coatings were analyzed before and after the thermal treatment, imitating natural application conditions. For the experiment, the annealing temperature was 500 °C for twenty-five cycles (80 min each). It was found that the steel substrate oxidized after five thermal cycles, and the formation of iron oxides was observed. The elemental composition of the Al2O3 and Al2O3-13 wt.% TiO2 coatings remained unchanged even after 25 cycles of heat treatment. The X-ray diffraction (XRD) results revealed that the alpha-Al2O3 to gamma-Al2O3 phase ratio in the Al2O3-TiO2 coating was reduced by only 8.7% after 25 cycles.
Finite Element Modeling of Brittle and Ductile Modes in Cutting of 3C-SiC
Authors: Alam Masud , Zhao Liang , Vajragupta Napat , Zhang Junjie , Hartmaier Alexander
Published: October 2021

Machining of brittle ceramics is a challenging task because the requirements on the cutting tools are extremely high and the quality of the machined surface strongly depends on the chosen process parameters. Typically, the efficiency of a machining process increases with the depth of cut or the feed rate of the tool. However, for brittle ceramics, this easily results in very rough surfaces or even in crack formation. The transition from a smooth surface obtained for small depths of cut to a rough surface for larger depths of cut is called a brittle-to-ductile transition in machining. In this work, we investigate the mechanisms of this brittle-to-ductile transition for diamond cutting of an intrinsically brittle 3C-SiC ceramic with finite element modeling. The Drucker–Prager model has been used to describe plastic deformation of the material and the material parameters have been determined by an inverse method to match the deformation behavior of the material under nanoindentation, which is a similar loading state as the one occurring during cutting. Furthermore, a damage model has been introduced to describe material separation during the machining process and also crack initiation in subsurface regions. With this model, grooving simulations of 3C-SiC with a diamond tool have been performed and the deformation and damage mechanisms have been analyzed. Our results reveal a distinct transition between ductile and brittle cutting modes as a function of the depth of cut. The critical depth of cut for this transition is found to be independent of rake angle; however, the surface roughness strongly depends on the rake angle of the tool.
Variations in the Shades of Contemporary Dental Ceramics: An In Vitro Analysis
Authors: Habib Syed Rashid , Rashoud Abdulaziz Saud Al , Safhi Turki Ali , Almajed Abdulrahman Hamad , Alnafisah Hamad Ali , Bajunaid Salwa Omar , Alqahtani Abdulaziz S. , Alqahtani Mohammed
Published: October 2021

Background: To identify and compare the shade variations of various commonly used esthetic dental ceramics by calculating their total-color-difference (ΔE) and translucency parameter (TP) using a spectrophotometer. Methods: In total, 165 disc specimens from three shades (A1, B1, and C1) of five ceramic materials (N = 55/shade; n = 11/ceramic material group) were prepared (Metal-ceramic (MC), IPS e.max press (Emax-P), IPS e.max layer (Emax-L), Layered Zirconia (Zr-L) and Monolithic zirconia (Zr-M)). With a spectrophotometer, the L* a* b* values were obtained. Total color differences (ΔE = [(ΔL*)2 + (Δa*)2 + (Δb*)2]1/2) and translucency parameter (TP = [(L*B − L*W)2 + (a*B − a*W)2 + (b*B – b*W)2]1/2) were calculated. The statistical tests included ANOVA and Post hoc Tukey’s analysis (p < 0.05). Results: Significant differences (p = 0.000) were found between the groups for ΔE. Highest ΔE (A1) were found for Zr-L (80.18 ± 20) and lowest for Zr-M (62.97 ± 1.28). For B1, highest ΔE values were noted for MC (76.85 + 0.78) and lowest for the Emax-L (62.13 ± 1.49). For C1, highest ΔE values were found for the MC group (73.96 ± 0 67) and lowest for Emax-P (55.09 ± 1.76). Translucency variations between tested ceramics were revealed (p < 0.05). Highest TP values (A1) were found for Emax-L (2.99 ± 1.64) and lowest for Zr-L (0.35 ± 0.16). For B1, highest TP values were noted for Emax-P (3.50 ± 1.74) and lowest for MC (0.57 ± 0.40). For C1, highest TP values were found for Emax-P (4.46 ± 2.42) and lowest for MC (0.58 ± 0 48). Conclusions: Significant differences in ΔE and TP were found for tested ceramic groups. The color differences of the tested materials varied according to clinical acceptability, even with the selection of same color/shade. The color/shades of the various dental ceramics do not match with the vita shade guide tabs, to which they are compared most often. Shade differences are present between different lots of ceramic materials from the same or different brands.
Zobellia barbeyronii sp. nov., a New Member of the Family Flavobacteriaceae, Isolated from Seaweed, and Emended Description of the Species Z. amurskyensis, Z. laminariae, Z. russellii and Z. uliginosa
Authors: Nedashkovskaya Olga , Otstavnykh Nadezhda , Zhukova Natalia , Guzev Konstantin , Chausova Viktoria , Tekutyeva Liudmila , Mikhailov Valery , Isaeva Marina
Published: October 2021

Six Gram-stain-negative, aerobic, rod-shaped, and motile by gliding bacterial strains were isolated from Pacific green and red algae. Phylogenetic analysis based on 16S rRNA gene sequences placed the novel strains into the genus Zobellia as a distinct evolutionary lineage close to Zobellia nedashkovskayae Asnod2-B07-BT and Zobellia laminariae KMM 3676T sharing the highest similarity of 99.7% and 99.5%, respectively. The average nucleotide identity and the average amino acid identity values between strains 36-CHABK-3-33T and Z. nedashkovskayae Asnod2-B07-BT and Z. laminariae KMM 3676T were 89.7%/92.9% and 94.2%/95.8%, respectively. The digital DNA–DNA hybridization values based on the draft genomes between strains 36-CHABK-3-33T and Z. nedashovskayae Asnod2-B07-BT and Z. laminariae KMM 3676T were 39.5 ± 2.5% and 59.6 ± 2.7%, respectively. Multilocus sequence analysis based on house-keeping genes (dnaK, gyrB, pyrH, recA and topA) assigned the alga-associated isolates to the same species, which clustered separately from the recognized species of the genus Zobellia. The strains under study grew at 4–32 °C and with 0.5–8% NaCl and decomposed aesculin, gelatin, DNA, and Tweens 20 and 80, and weakly agar. The DNA G+C content was 36.7% calculated from genome sequence analysis for the strain 36-CHABK-3-33T. The predominant fatty acids of strain 36-CHABK-3-33T (>5% of the total fatty acids) were iso-C17:0 3-OH, summed feature 3 (comprising C16:1ω7c and/or iso-C15:0 2-OH fatty acids), iso-C15:0, iso-C15:1 G, and C15:0. The major polar lipids were phosphatidylethanolamine, three unidentified lipids, and two unidentified aminolipids. The only detected respiratory quinone was MK-6. The significant molecular distinctiveness between the novel isolates and their nearest neighbor was strongly supported by differences in physiological and biochemical tests. Therefore, the six novel strains represent a novel species of the genus Zobellia, for which the name Zobellia barbeyronii sp. nov. is proposed. The type strain is 36-CHABK-3-33T (= KACC 21790T = KMM 6746T).
An Application for Aesthetic Quality Assessment in Photography with Interpretability Features
Authors: Rubio Perona Fernando , Flores Gallego María Julia , Puerta Callejón José Miguel
Published: October 2021

Automatic aesthetic quality assessment is a computer vision problem in which we quantify the attractiveness or the appealingness of a photograph. This is especially useful in social networks, where the amount of images generated each day requires automation for processing. This work presents Aesthetic Selector, an application able to identify images of high aesthetic quality, showing also relevant information about the decisions and providing the use of the most appropriate filters to enhance a given image. We then analyzed the main proposals in the aesthetic quality field, describing their strengths and weaknesses in order to determine the filters to be included in the application Aesthetic Selector. This proposed application was tested, giving good results, in three different scenarios: image selection, image finding, and filter selection. Besides, we carried out a study of distinct visualization tools to better understand the models’ behavior. These techniques also allow detecting which areas are more relevant within the images when models perform classification. The application also includes this interpretability module. Aesthetic Selector is an innovative and original program, because in the field of aesthetic quality in photography, there are no applications that identify high-quality images and also because it offers the capability of showing information about which parts of the image have affected this decision.
Optimizing Few-Shot Learning Based on Variational Autoencoders
Authors: Wei Ruoqi , Mahmood Ausif
Published: October 2021

Despite the importance of few-shot learning, the lack of labeled training data in the real world makes it extremely challenging for existing machine learning methods because this limited dataset does not well represent the data variance. In this research, we suggest employing a generative approach using variational autoencoders (VAEs), which can be used specifically to optimize few-shot learning tasks by generating new samples with more intra-class variations on the Labeled Faces in the Wild (LFW) dataset. The purpose of our research is to increase the size of the training dataset using various methods to improve the accuracy and robustness of the few-shot face recognition. Specifically, we employ the VAE generator to increase the size of the training dataset, including the basic and the novel sets while utilizing transfer learning as the backend. Based on extensive experimental research, we analyze various data augmentation methods to observe how each method affects the accuracy of face recognition. The face generation method based on VAEs with perceptual loss can effectively improve the recognition accuracy rate to 96.47% using both the base and the novel sets.
Energy Performance of Buildings with Thermochromic Windows in Mediterranean Climates
Authors: Arnaoutakis Georgios E. , Katsaprakakis Dimitris A.
Published: October 2021

This article presents comparative results on the energy performance of buildings in the Mediterranean. Many buildings in the Mediterranean exhibit low energy performance ranking. Thermochromic windows are able to improve the energy consumption by controlling the gains from sunlight. In this article, reference buildings in 15 cities around the Mediterranean are investigated. In this work, a dynamic building information modeling approach is utilized, relying on three-dimensional geometry of office buildings. Calculations of the energy demand based on computational simulations of each location were performed, for the estimation of heating and cooling loads. The presented study highlighted the need for high-resolution data for detailed simulation of thermochromic windows in buildings of Mediterranean cities. Temperature is one of the main climate parameters that affect the energy demand of buildings. However, the climate of Mediterranean cities nearby the sea may affect the energy demand. This was more pronounced in cities with arid Mediterranean climate with increased demand in air-conditioning during the summer months. On the other hand, cities with semi-arid Mediterranean climate exhibited relatively increased heating demand. With this parametric approach, the article indicates the energy saving potential of the proposed measures for each Mediterranean city. Finally, these measures can be complemented by overall building passive and active systems for higher energy reductions and increased comfort.
Investigation of Sound Absorption Properties of Heat-Treated Indonesian Momala (Homalium foetidum (Roxb.) Benth.) and Korean Red Toon (Toona sinensis (A. Juss.) M. Roem.) Cross Sections
Authors: Jang Eun-Suk , Kang Chun-Won
Published: October 2021

This study investigates the effects of heat treatment time and presence of an air back cavity on the sound absorption performance of Indonesian momala (Homalium foetidum (Roxb.) Benth.) and Korean red toon (Toona sinensis (A. Juss.) M. Roem.) cross sections. To examine the porous characteristics of the two species before and after heat treatment, gas permeability, pore size, and porosity analyses were conducted. Additionally, the sound absorption coefficient was measured based on various heat treatment times and air back cavity sizes. The results showed that, with heat treatment at 210 °C for 6 h, the gas permeability improved by 4.3% for the momala and 38.5% for the red toon, the maximum pore size was improved by 5.25% in the momala and 26.0% in the red toon, and the through-pore porosity improved by 22.7% for the momala and 117.0% for the red toon. Due to these pore structure changes, the noise reduction coefficient (NRC) of the heat-treated momala improved by 6.8%. When a 3-cm air back cavity was applied to the heat-treated momala, the NRC was improved to 92.5%. Similarly, when the same air back cavity was applied to the heat-treated red toon, the NRC was improved to 190.7%. This study demonstrated that an increase in pore size and through-pore porosity by heat treatment triggered an increase in the sound absorption coefficient. Additionally, when an air cavity was applied, the sound absorption coefficient of both heat-treated wood species was increased at low frequency. From the results of this study, we expected that heat-treated momala and red toon cross-sections can be utilized as eco-friendly ceiling materials with sound absorption function.
Instability of Lenticular Vortices: Results from Laboratory Experiments, Linear Stability Analysis and Numerical Simulations
Authors: Lahaye Noé , Paci Alexandre , Llewellyn Smith Stefan G.
Published: October 2021

The instability of surface lenticular vortices is investigated using a comprehensive suite of laboratory experiments combined with numerical linear stability analysis as well as nonlinear numerical simulations in a two-layer Rotating Shallow Water model. The development of instabilities is discussed and compared between the different methods. The linear stability analysis allows for a clear description of the origin of the instability observed in both the laboratory experiments and numerical simulations. While global qualitative agreement is found, some discrepancies are observed and discussed. Our study highlights that the sensitivity of the instability outcome is related to the initial condition and the lower-layer flow. The inhibition or even suppression of some unstable modes may be explained in terms of the lower-layer potential vorticity profile.
Vitamin E Supplementation Enhances Lipid Oxidative Stability via Increasing Vitamin E Retention, Rather Than Gene Expression of MAPK-Nrf2 Signaling Pathway in Muscles of Broilers
Authors: Xu Lei , Wang Jing , Zhang Haijun , Wu Shugeng , Yue Hongyuan , Wan Xiaoli , Yang Haiming , Wang Zhiyue , Qi Guanghai
Published: October 2021

Dietary vitamin E (VE) supplementation is a method to produce VE-enriched meat and improve meat lipid oxidative stability. We aimed to study the effect of the VE supplementation duration on meat lipid oxidative stability, VE retention, and antioxidant enzymes’ activity, and explore its relationship with the mitogen-activated protein kinases (MAPK)-nuclear factor-erythroid 2-related factor 2 (Nrf2) signaling pathway in broilers slaughtered after electrical stunning. A total of 240 male 18-day-old Arbor Acres Plus broilers were distributed to four treatments, with six replicates in each treatment, and ten broilers per replicate. Broilers were fed with a basal diet (no supplementation of VE) or VE diet (200 IU/kg VE, DL-α- tocopherol) for one (W1), two (W2), or three (W3) weeks before electrical stunning (130 mA, 60 Hz, for 1s) and slaughter. The VE retention was positively and linearly affected (p < 0.01) by the VE feeding duration at one to three weeks before slaughter, and negatively (all p < 0.01) related to the thiobarbituric acid reactive substance (TBARS) content in both breast and thigh muscles at d 0, d 2, and d 6 postmortem. The VE retention was negatively (p < 0.05) related to the gene expression of c-Jun N-terminal kinases 1 (JNK1) and 2 (JNK2), Nrf2 in breast muscles, and JNK1 and p38 MAPK in thigh muscles. In conclusion, dietary vitamin E supplementation at 200 IU/kg for three weeks before electrical stunning and slaughter improved lipid oxidative stability via increasing VE retention, rather than the regulation by gene expression of the MAPK-Nrf2 signaling pathway in skeletal muscles of broilers.
Analysis of the Temperature Distribution in a Refrigerated Truck Body Depending on the Box Loading Patterns
Authors: So Jun-Hwi , Joe Sung-Yong , Hwang Seon-Ho , Jun Soojin , Lee Seung-Hyun
Published: October 2021

The main purpose of cold chain is to keep the temperature of products constant during transportation. The internal temperature of refrigerated truck body is mainly measured with a temperature sensor installed at the hottest point on the body. Hence, the measured temperature cannot represent the overall temperature values of transported products in the body. Moreover, the airflow pattern in the refrigerated body can vary depending on the arrangement of loaded logistics, resulting temperature differences between the transported products. In this study, the airflow and temperature change in the refrigerated body depending on the loading patterns of box were analyzed using experimental and numerical analysis methods. Ten different box loading patterns were applied to the body of 0.5 ton refrigerated truck. The temperatures inside boxes were measured depending on the loading patterns. CFD modeling with two different turbulence models (k-ε and SST k-ω) was developed using COMSOL Multiphysics for predicting the temperatures inside boxes loaded with different patterns, and the predicted data were compared to the experimental data. The k-ε turbulence model showed a higher temperature error than the SST k-ω model; however, the highest temperature point inside the boxes was almost accurately predicted. The developed model derived an approximate temperature distribution in the boxes loaded in the refrigerated body.
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Authors: Moreira Jesse D. , Gopal Deepa M. , Kotton Darrell N. , Fetterman Jessica L.
Published: October 2021

Mitochondria are specialized organelles involved in energy production that have retained their own genome throughout evolutionary history. The mitochondrial genome (mtDNA) is maternally inherited and requires coordinated regulation with nuclear genes to produce functional enzyme complexes that drive energy production. Each mitochondrion contains 5–10 copies of mtDNA and consequently, each cell has several hundreds to thousands of mtDNAs. Due to the presence of multiple copies of mtDNA in a mitochondrion, mtDNAs with different variants may co-exist, a condition called heteroplasmy. Heteroplasmic variants can be clonally expanded, even in post-mitotic cells, as replication of mtDNA is not tied to the cell-division cycle. Heteroplasmic variants can also segregate during germ cell formation, underlying the inheritance of some mitochondrial mutations. Moreover, the uneven segregation of heteroplasmic variants is thought to underlie the heterogeneity of mitochondrial variation across adult tissues and resultant differences in the clinical presentation of mitochondrial disease. Until recently, however, the mechanisms mediating the relation between mitochondrial genetic variation and disease remained a mystery, largely due to difficulties in modeling human mitochondrial genetic variation and diseases. The advent of induced pluripotent stem cells (iPSCs) and targeted gene editing of the nuclear, and more recently mitochondrial, genomes now provides the ability to dissect how genetic variation in mitochondrial genes alter cellular function across a variety of human tissue types. This review will examine the origins of mitochondrial heteroplasmic variation and propagation, and the tools used to model mitochondrial genetic diseases. Additionally, we discuss how iPSC technologies represent an opportunity to advance our understanding of human mitochondrial genetics in disease.
Associations of Polymorphisms Localized in the 3′UTR Regions of the KRAS, NRAS, MAPK1 Genes with Laryngeal Squamous Cell Carcinoma
Authors: Insodaite Ruta , Smalinskiene Alina , Liutkevicius Vykintas , Ulozas Virgilijus , Poceviciute Roberta , Bielevicius Arunas , Kucinskas Laimutis
Published: October 2021

Background: Genetic variations, localized in the 3′ untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3′UTR) of the KRAS, NRAS, and MAPK1 genes with LSCC risk and clinicopathological features. Methods: Genomic DNA and clinical data were collected from 327 adult men with LSCC. The control group was formed from 333 healthy men. Genotyping of the SNPs was performed using TaqMan SNP genotyping assays. Five KRAS, NRAS, and MAPK1 polymorphisms were analyzed. All studied genotypes were in Hardy–Weinberg equilibrium and had the same allele distribution as the 1000 Genomes project Phase 3 dataset for the European population. Results: Significant associations of the studied SNPs with reduced LSCC risk were observed between NRAS rs14804 major genotype CC. Significant associations of the studied SNPs with clinicopathologic variables were also observed between NRAS rs14804 minor T allele and advanced tumor stage and positive lymph node status. SNP of MAPK1 rs9340 was associated with distant metastasis. Moreover, haplotype analysis of two KRAS SNPs rs712 and rs7973450 revealed that TG haplotype was associated with positive lymph node status in LSCC patients. Conclusions: According to the present study, 3′UTR SNP in the NRAS and MAPK1 genes may contribute to the identifications of patients at higher risk of LSCC lymph node and distant metastasis development.
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large
Authors: Pu Na , Masson Emmanuelle , Cooper David N. , Génin Emmanuelle , Férec Claude , Chen Jian-Min
Published: October 2021

A diverse range of loss-of-function variants in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) has been identified in patients with chronic pancreatitis (CP). The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser or N34S) variant (rs17107315:T>C) is one of the most important heritable risk factors for CP as a consequence of its relatively high prevalence worldwide (population allele frequency ≈ 1%) and its considerable effect size (odds ratio ≈ 11). The causal variant responsible for this haplotype has been intensively investigated over the past two decades. The different hypotheses tested addressed whether the N34S missense variant has a direct impact on enzyme structure and function, whether c.101A>G could affect pre-mRNA splicing or mRNA stability, and whether another variant in linkage disequilibrium with c.101A>G might be responsible for the observed association with CP. Having reviewed the currently available genetic and experimental data, we conclude that c.-4141G>T (rs142703147:C>A), which disrupts a PTF1L-binding site within an evolutionarily conserved HNF1A-PTF1L cis-regulatory module located ∼4 kb upstream of the SPINK1 promoter, can be designated as the causal variant beyond reasonable doubt. This case illustrates the difficulties inherent in determining the identity of the causal variant underlying an initially identified disease association.
Revisiting Plant Heterosis—From Field Scale to Molecules
Authors: Rehman Attiq ur , Dang Trang , Qamar Shanzay , Ilyas Amina , Fatema Reemana , Kafle Madan , Hussain Zawar , Masood Sara , Iqbal Shehyar , Shahzad Khurram
Published: October 2021

Heterosis refers to the increase in biomass, stature, fertility, and other characters that impart superior performance to the F1 progeny over genetically diverged parents. The manifestation of heterosis brought an economic revolution to the agricultural production and seed sector in the last few decades. Initially, the idea was exploited in cross-pollinated plants, but eventually acquired serious attention in self-pollinated crops as well. Regardless of harvesting the benefits of heterosis, a century-long discussion is continued to understand the underlying basis of this phenomenon. The massive increase in knowledge of various fields of science such as genetics, epigenetics, genomics, proteomics, and metabolomics persistently provide new insights to understand the reasons for the expression of hybrid vigor. In this review, we have gathered information ranging from classical genetic studies, field experiments to various high-throughput omics and computational modelling studies in order to understand the underlying basis of heterosis. The modern-day science has worked significantly to pull off our understanding of heterosis yet leaving open questions that requires further research and experimentation. Answering these questions would possibly equip today’s plant breeders with efficient tools and accurate choices to breed crops for a sustainable future.
Identification of Genomic Regions Controlling Chalkiness and Grain Characteristics in a Recombinant Inbred Line Rice Population Based on High-Throughput SNP Markers
Authors: Dwiningsih Yheni , Kumar Anuj , Thomas Julie , Ruiz Charles , Alkahtani Jawaher , Al-hashimi Abdulrahman , Pereira Andy
Published: October 2021

Rice (Oryza sativa L.) is the primary food for half of the global population. Recently, there has been increasing concern in the rice industry regarding the eating and milling quality of rice. This study was conducted to identify genetic information for grain characteristics using a recombinant inbred line (RIL) population from a japonica/indica cross based on high-throughput SNP markers and to provide a strategy for improving rice quality. The RIL population used was derived from a cross of “Kaybonnet (KBNT lpa)” and “ZHE733” named the K/Z RIL population, consisting of 198 lines. A total of 4133 SNP markers were used to identify quantitative trait loci (QTLs) with higher resolution and to identify more accurate candidate genes. The characteristics measured included grain length (GL), grain width (GW), grain length to width ratio (RGLW), hundred grain weight (HGW), and percent chalkiness (PC). QTL analysis was performed using QTL IciMapping software. Continuous distributions and transgressive segregations of all the traits were observed, suggesting that the traits were quantitatively inherited. A total of twenty-eight QTLs and ninety-two candidate genes related to rice grain characteristics were identified. This genetic information is important to develop rice varieties of high quality.
Multi-Omics Interpretation of Anti-Aging Mechanisms for ω-3 Fatty Acids
Authors: Xie Shu-Hui , Li Hui , Jiang Jing-Jing , Quan Yuan , Zhang Hong-Yu
Published: October 2021

Aging is one of the hottest topics in biomedicine. Previous research suggested that ω-3 fatty acids have preventive effects on aging. However, most of previous studies on the anti-aging effects of ω-3 fatty acids are focused on clinical observations, and the anti-aging mechanisms of ω-3 fatty acids have not been fully elucidated. This stimulated our interest to use multi-omics data related to ω-3 fatty acids in order to interpret the anti-aging mechanisms of ω-3 fatty acids. First, we found that ω-3 fatty acids can affect methylation levels and expression levels of genes associated with age-related diseases or pathways in humans. Then, a Mendelian randomization analysis was conducted to determine whether there is a causal relationship between the effect of ω-3 fatty acids on blood lipid levels and variation in the gut microbiome. Our results indicate that the impact of ω-3 fatty acids on aging is partially mediated by the gut microbiome (including Actinobacteria, Bifidobacteria and Streptococcus). In conclusion, this study provides deeper insights into the anti-aging mechanisms of ω-3 fatty acids and supports the dietary supplementation of ω-3 fatty acids in aging prevention.
County-Level Socioeconomic Status Adjustment of Acute Myocardial Infarction Mortality Hospital Performance Measure in the U.S.
Authors: Daley Sean , Kajendrakumar Bakthameera , Nandhakumar Samyuktha , Personett Christine , Sholes Michael , Thapa Swornim , Xue Chen , Korvink Michael , Gunn Laura H.
Published: October 2021

The U.S. Centers for Medicare and Medicaid Services’ (CMS’s) Hospital Compare (HC) data provides a collection of risk-adjusted hospital performance metrics intended to allow comparison of hospital-provided care. However, CMS does not adjust for socioeconomic status (SES) factors, which have been found to be associated with disparate health outcomes. Associations between county-level SES factors and CMS’s risk-adjusted 30-day acute myocardial infarction (AMI) mortality rates are explored for n = 2462 hospitals using a variety of sources for county-level SES information. Upon performing multiple imputation, a stepwise backward elimination model selection approach using Akaike’s information criteria was used to identify the optimal model. The resulting model, comprised of 14 predictors mostly at the county level, provides an additional 8% explanatory power to capture the variability in 30-day risk-standardized AMI mortality rates, which already account for patient-level clinical differences. SES factors may be an important feature for inclusion in future risk-adjustment models, which will have system and policy implications for distributing resources to hospitals, such as reimbursements. It also serves as a stepping stone to identify and address long-standing SES-related inequities.
Effect of Four Weeks of Home-Based Balance Training on the Performance in Individuals with Functional Ankle Instability: A Remote Online Study
Authors: Seyedi Mohammadreza , Nobari Hadi , Abbasi Hamed , Khezri Davood , Oliveira Rafael , Pérez-Gómez Jorge , Badicu Georgian , Afonso José
Published: October 2021

The purpose of the current study is to evaluate the effect of 4 weeks of home-based balance training (HBBT) on the performance of individuals with functional ankle instability (FAI) in daily activities and sports. Thirty college students diagnosed with FAI and with a mean weight of 79.8 ± 3.4 kg, height of 182.5 ± 5.1 cm, age of 23.5 ± 1.2 years, and instability score of 20 ± 2.3 were selected to participate in this study and were randomly divided by computer-generated methods into two groups: the HBBT group and the control group (CG), each consisting of 15 subjects. The HBBT group performed the program at home for 4 weeks, while the CG was non-exercise. Before and after the 4 weeks of exercise program, a form containing the foot and ankle ability measure for daily activities and sports was completed by the individuals. For data analysis, intra- and inter-group comparisons were performed using paired and independent sample t-tests, respectively, at a significance level of p ≤ 0.05. The results showed that 4 weeks of progressive HBBT were sufficient to significantly improve the measurement of the ability of ankle and foot function in individuals with FAI, even with a total volume of only 60 min per week. Accordingly, it is suggested that individuals with FAI can benefit from short-term HBBT programs, which are simple yet powerful enough to promote improvements in daily activities.
Validation of an Arabic Version of the Adherence to Refills and Medications Scale (ARMS)
Authors: Alammari Ghaida , Alhazzani Hawazin , AlRajhi Nouf , Sales Ibrahim , Jamal Amr , Almigbal Turky H. , Batais Mohammed A. , Asiri Yousif A. , AlRuthia Yazed
Published: October 2021

Background: Medication non-adherence is a complex multifactorial phenomenon impacting patients with various health conditions worldwide. Therefore, its detection can improve patient outcomes and minimize the risk of adverse consequences. Even though multiple self-reported medication adherence assessment scales are available, very few of them exist in Arabic language. Therefore, the aim of this study was to validate a newly translated Arabic version of the Adherence to Refills and Medications Scale (ARMS) among patients with chronic health conditions. Methods: This is a single-center cross-sectional study that was conducted between October 10th 2018 and March 23rd 2021. ARMS was first translated to Arabic using the forward-backward translation method. The translated scale was then piloted among 21 patients with chronic health conditions (e.g., diabetes, hypertension, etc.…) to examine its reliability and comprehensibility using the test-retest method. Thereafter, the Arabic-translated ARMS was self-administered to adult patients aged ≥18 years with chronic health conditions visiting the primary care clinics of a university-affiliated tertiary care hospital in Riyadh, Saudi Arabia. Construct validity was examined using factor analysis with varimax rotation. Results: Of the 264 patients who were invited to participate, 202 (76.5%) consented and completed the questionnaire. Most of the participants were males (69.9%), married (75.2%), having a college degree or higher (50.9%), retired or unemployed (65.2%), aged ≥ 50 years (65.2%), and are diabetic (95.9%). The 12-item Arabic-translated ARMS mean score was 17.93 ± 4.90, and the scale yielded good internal consistency (Cronbach’s alpha = 0.802) and test-retest reliability (Intraclass correlation coefficient = 0.97). Two factors were extracted explaining 100% of the of the total variance (factor 1 = 52.94% and factor 2 = 47.06%). Conclusions: The 12-item Arabic version of ARMS demonstrated good validity and reliability. Therefore, it should help in the detection of medication non-adherence among Arabic-speaking patient population and minimize the risk of adverse consequences.
Esophageal Motility Disorders in the Natural History of Acid-Dependent Causes of Dysphagia and Their Influence on Patients’ Quality of Life—A Prospective Cohort Study
Authors: Sarbinowska Joanna , Wiatrak Benita , Waśko-Czopnik Dorota
Published: October 2021

Background: Esophageal dysmotility may be the cause or a secondary effect of gastric acid-dependent diseases: erosive reflux disease (ERD), Schatzki ring (SR) and eosinophilic esophagitis (EoE). Methods: This study aims to compare concomitant dysphagia with ERD, SR and EoE, considering manometric patterns, their role in the natural history and their impact on assessing quality of life. Fifty-eight patients with dysphagia underwent high-resolution manometry and esophago-gastro-duodenoscopy (EGD) with an assessment of SR, ERD and sampling for EoE, completed a questionnaire with the Eating Assessment Tool (EAT-10) and the Gastrointestinal Quality of Life Index. Based on endoscopic images and the histopathological criterion of EoE (≥15 eosinophils/high-power field), patients were assigned to groups with ERD, EoE, SR and with normal endoscopic and histopathological images. In the data analysis, p ≤ 0.05 was considered statistically significant. This trial was registered with ClinicalTrials.gov (no. NCT04803162). Results: Both EoE, SR and ERD correlate with ineffective motility. In ERD, normal peristalsis precedes the development of the disease, unlike EoE, which develops later and leads to absent contractility. The development of SR is associated with disorders of the upper esophageal sphincter (UES). In the group with SR and ERD, UES insufficiency significantly reduces the quality of life. Patients with normal esophagus in EGD scored the lowest quality of life and those with SR had the most severe dysphagia. Conclusion: The esophageal motility disorders co-occurring with endoscopic and histological anomalies do not significantly affect the severity of dysphagia, however, in the case of patients with ERD and SR and concomitant UES insufficiency, this motor dysfunction has a significant impact on the reduction in the patients’ quality of life. Although no specific esophageal motility pattern typical of EoE, ERD and SR has been identified, comparative assessment of manometric features may have a potential role in differential diagnosis.
Use of the Washington Group Questions in Non-Government Programming
Authors: Robinson Alex , Nguyen Liem , Smith Fleur
Published: October 2021

The Washington Group questions (WGQ) on functioning have been widely promoted as the go-to tool for disability data collection. Designed for use by government, the WGQ have been adopted by non-government organizations (NGOs) for use in programming. However, little is known about how the WGQs are being used by NGOs or how use may be contributing to disability inclusion. Method: This paper describes exploratory research on the use of the WGQ in NGO programming. An online survey provided an overview of adoption followed by semi-structured interviews from a purposive sample to explore data collection, analysis, and use. Results: Thematic analysis showed limited inclusion outcomes directly attributable to use of the WGQ, adoption driven by individual champions rather than systematically across organizations, and challenges in data collection resulting in a wide range of prevalence rates. What information the WGQ can realistically contribute to programs was also overestimated. However, the process of using the WGQ was raising awareness on disability inclusion within program teams and communities. Conclusion: Acknowledging differences in emerging use by NGOs beyond the WGQ’s intended purpose, alongside promoting a flexible and staged approach to adoption and use in programming, may improve utility and disability inclusion outcomes over time.
When Does a Lot Become Too Much? A Q Methodological Investigation of UK Student Perceptions of Digital Addiction
Authors: Turner Luke , Bewick Bridgette M. , Kent Sarah , Khyabani Azaria , Bryant Louise , Summers Barbara
Published: October 2021

Despite the benefits of the internet and other digital technology, the online world has been associated with a negative impact on university student wellbeing. Many university students report symptoms of pathological internet use. Internationally, further research is needed to understand what student users of technology perceive to be problematic internet and/or digital use. The current study explores the range of perceptions that university students hold about ‘digital addiction’. We recruited 33 participants from a UK university into a Q-methodology study. Participants sorted, ranked, and commented on fifty-two statements representing the concourse of ‘things written or said about digital addiction’. The statements were identified from a comprehensive search of a wide variety of sources (e.g., newspapers, academic articles, blogs, and YouTube). Principal Component Analysis was used to identify four distinct viewpoints of ‘digital addiction’: (I) digital addiction is differentiated by the negative consequences experienced by addicted individuals; (II) digital addiction comes from our fascination with the online world; (III) digital addiction is an attempt to escape real world problems and impacts on mental health and relationships; (IV) digital addiction is defined by the amount of time we spend online. All four viewpoints share the perception that people do not realize they are digitally addicted because using and having digital devices on you at all times has become the social norm. There was also overall agreement that that those with ‘addictive personalities’ were more likely to be ‘digitally addicted’. Despite these similarities, complexity and contradictions within the viewpoints surrounding what digital addiction is and how it might be defined are apparent. The information found in this study provides important suggestions of how we might frame prevention and early intervention messages to engage students and ensure they develop the skills necessary to successfully manage their digital lives.
Digital Surveillance to Identify California Alternative and Emerging Tobacco Industry Policy Influence and Mobilization on Facebook
Authors: Xu Qing , Yang Joshua , Haupt Michael R. , Cai Mingxiang , Nali Matthew C. , Mackey Tim K.
Published: October 2021

Growing popularity of electronic nicotine-delivery systems (ENDS) has coincided with a need to strengthen tobacco-control policy. In response, the ENDS industry has taken actions to mobilize against public health measures, including coordination on social media platforms. To explore this phenomenon, data mining was used to collect public posts on two Facebook public group pages: the California Consumer Advocates for Smoke Free Alternatives Association (CCASAA) and the community page of the Northern California Chapter of SFATA (NC-SFATA). Posts were manually annotated to characterize themes associated with industry political interference and user interaction. We collected 288 posts from the NC-SFATA and 411 posts from CCASAA. A total of 522 (74.7%) posts were categorized as a form of political interference, with 339 posts (64.9%) from CCASAA and 183 posts (35.1%) from NC-SFATA. We identified three different categories of policy interference-related posts: (1) providing updates on ENDS-related policy at the federal, state, and local levels; (2) sharing opinions about ENDS-related policies; (3) posts related to scientific information related to vaping; and (4) calls to action to mobilize against tobacco/ENDS policies. Our findings indicate that pro-tobacco social media communities on Facebook, driven by strategic activities of trade associations and their members, may act as focal points for anti-policy information dissemination, grass-roots mobilization, and industry coordination that needs further research.
Positive Self-Perceptions of Aging Play a Significant Role in Predicting Physical Performance among Community-Dwelling Older Adults
Authors: Nilsson Emma , Igelström Helena , Vikman Irene , Larsson Agneta , Pauelsen Mascha
Published: October 2021

Self-perceptions of aging (SPA) is associated with various health-related outcomes, including physical performance. No previous study has investigated the potential predictive influence of SPA on physical performance among Swedish community-dwelling older adults. This was a cross-sectional study using a random sample of 153 Swedish community-dwelling individuals aged 70 and older. Multiple logistic regression analysis was performed, using the subscale “Attitude Towards Own Aging” of the Philadelphia Geriatric Center Morale Scale, as a measure of SPA. The Short Physical Performance Battery (SPPB) was dichotomized and used as the outcome variable. SPA was a significant predictor (OR = 1.546, CI = 1.066–2.243) of physical performance, adjusted for age, cognitive function, and life-space mobility. Further analyses revealed significant sex differences, with SPA not being included in the model for the men whilst it was still a significant predictor (OR = 1.689, CI = 1.031–2.765) of physical performance in the group of women. SPA plays a significant role in predicting physical performance among Swedish community-dwelling older adults. To further clarify this relationship and its consequences, future longitudinal research should focus on the relationship between SPA, physical performance, and fall risk.