bluuebunny/crossref_metadata_2025 huggingface dataset:
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation
Authors: Biela Mateusz , Rydzanicz Malgorzata , Jankowska Agnieszka , Szlagatys-Sidorkiewicz Agnieszka , Rozensztrauch Anna , Płoski Rafał , Smigiel Robert
Published: January 2022

Until 2021, the ZNF699 gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in ZNF699 and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a ZNF699 gene mutation. All patients presented global developmental delay and with systemic manifestations. A new phenotype was proposed and called DEGCAGS syndrome (OMIM 619488) (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities). The DEGCAGS syndrome is inherited in the autosomal recessive mode. Here, we report a new case (14th up to date) of a patient with ZNF699 gene mutation, whose symptoms and dysmorphic features were similar to those presented by Bertoli-Avella et al. In addition, we have analyzed the frequency of occurrence of particular symptoms in the patients described so far.
Variation in Genotype and DNA Methylation Patterns Based on Alcohol Use and CVD in the Korean Genome and Epidemiology Study (KoGES)
Authors: Jung Myoungjee , Ahn Yeon-Soon , Chang Sei-Jin , Kim Chun-Bae , Jeong Kyoung Sook , Koh Sang-Baek , Gim Jeong-An
Published: January 2022

Alcohol consumption can increase the risk of chronic diseases, such as myocardial infarction, coronary artery disease, hyperlipidemia, and hypertension. We aimed to assess the association between genotype, DNA methylation patterns, alcohol consumption, and chronic diseases in Korean population. We analyzed 8840 subjects for genotypes and 446 for DNA methylation among the 9351 subjects from the Korean Genome and Epidemiology Study (KoGES). We further divided both groups into two sub-groups according to the presence/absence of chronic diseases. We selected genes whose methylation varied significantly with alcohol consumption, and visualized genotype and DNA methylation patterns specific to each group. Genome-wide association study (GWAS) revealed single nucleotide polymorphisms (SNPs) rs2074356 and rs11066280 in HECT domain E3 ubiquitin protein ligase 4 (HECTD4) to be significantly associated with alcohol consumption in both the presence. The rs12229654 genotype also displayed significantly different patterns with alcohol consumption. Furthermore, we retrieved differentially methylated regions (DMRs) from four groups based on sex and chronic diseases and compared them by drinking status. In genotype analysis, cardiovascular diseases (CVDs) showed a higher proportion in drinker than in non-drinker, but not in DMR analysis. Additionally, we analyzed the enriched Gene Ontology terms and Kyoto Gene and Genome Encyclopedia (KEGG) pathways and visualized the network, heatmap, and upset plot. We show that the pattern of DNA methylation associated with CVD is strongly influenced by alcoholism. Overall, this study identified genetic and epigenetic variants influenced by alcohol consumption and chronic diseases.
Can Nutrients and Dietary Supplements Potentially Improve Cognitive Performance Also in Esports?
Authors: Szot Monika , Karpęcka-Gałka Ewa , Dróżdż Remigiusz , Frączek Barbara
Published: January 2022

Factors influencing brain function and cognitive performance can be critical to athletic performance of esports athletes. This review aims to discuss the potential beneficial effects of micronutrients, i.e., vitamins, minerals and biologically active substances on cognitive functions of e-athletes. Minerals (iodine, zinc, iron, magnesium) and vitamins (B vitamins, vitamins E, D, and C) are significant factors that positively influence cognitive functions. Prevention of deficiencies of the listed ingredients and regular examinations can support cognitive processes. The beneficial effects of caffeine, creatine, and probiotics have been documented so far. There are many plant products, herbal extracts, or phytonutrients that have been shown to affect precognitive activity, but more research is needed. Beetroot juice and nootropics can also be essential nutrients for cognitive performance. For the sake of players’ eyesight, it would be useful to use lutein, which, in addition to improving vision and protecting against eye diseases, can also affect cognitive functions. In supporting the physical and mental abilities of e-athletes the base is a well-balanced diet with adequate hydration. There is a lack of sufficient evidence that has investigated the relationship between dietary effects and improved performance in esports. Therefore, there is a need for randomized controlled trials involving esports players.
An Analysis of Women’s Fitness Demands and Their Influencing Factors in Urban China
Authors: Mao Yupeng , Zhu Yongsheng , Sun Fengxin , Jia Changjun , Liu Bing
Published: January 2022

The “Healthy China 2030” plan states that it is necessary to formulate and implement physical health intervention plans for special groups, including women. Based on questionnaire data from women in seven Chinese cities, our research analyzed the status quo of women’s fitness, its influencing factors, and the differences in and characteristics of different types of women’s fitness demands from four aspects: demography, fitness motivation, fitness behavior, and fitness demands, so as to provide a reference for the promotion of women’s fitness. A total of 3473 valid samples were completed. The questionnaire included five age groups: there were 146 in the “20–29 years old” group, 829 in the “30–39 years old” group, 1088 in the “40–49 years old” group, 1105 in the “50–59 years old” group and 305 in the “60 years old and above” group. The questionnaire used in this study was a self-made questionnaire. The contents of the questionnaire included age, occupation, educational level, family circumstances, and health status, women’s fitness behavior, fitness motivation and fitness demands. The results show that the current situation of urban women’s fitness in China is characterized by low frequency and short duration of exercise. The internal factors affecting women’s fitness demands include fitness motivation and fitness behavior. The external factors affecting their fitness demands are social environment and family environment. The differences in women’s fitness demands mainly come from women’s occupation, monthly income, and family stage.
Opuntia genus in Human Health: A Comprehensive Summary on Its Pharmacological, Therapeutic and Preventive Properties. Part 1
Authors: Madrigal-Santillán Eduardo , Portillo-Reyes Jacqueline , Madrigal-Bujaidar Eduardo , Sánchez-Gutiérrez Manuel , Mercado-Gonzalez Paola , Izquierdo-Vega Jeannett , Vargas-Mendoza Nancy , Álvarez-González Isela , Fregoso-Aguilar Tomás , Delgado-Olivares Luis , Morales-González Ángel , Anguiano-Robledo Liliana , Morales-González José
Published: January 2022

Opuntia spp. is a diverse and widely distributed genus in Africa, Asia, Australia, and America. Mexico has the largest number of wild species; mainly O. streptacantha, O. hyptiacantha, O. albicarpa, O. megacantha and O. ficus-indica. The latter being the most cultivated and domesticated species. Throughout history, plants and their phytochemicals have played an important role in health care and Opuntia spp. has shown a high nutritional, medicinal, pharmaceutical, and economic impacts. Its main bioactive compounds include pigments (carotenoids, betalains and betacyanins), vitamins, flavonoids (isorhamnetin, kaempferol, quercetin) and phenolic compounds. Together, they favor the different plant parts and are considered phytochemically important and associated with control, progression and prevention of some chronic and infectious diseases. This first review (Part 1), compiles information from published research (in vitro, in vivo, and clinical studies) on its preventive effects against atherosclerotic cardiovascular diseases, diabetes and obesity, hepatoprotection, effects on human infertility and chemopreventive and/or antigenotoxic capacity. The aim is to provide scientific evidences of its beneficial properties and to encourage health professionals and researchers to expand studies on the pharmacological and therapeutic effects of Opuntia spp.
Hydrogen Storage Mechanism in Sodium-Based Graphene Nanoflakes: A Density Functional Theory Study
Authors: Tachikawa Hiroto , Yi Heewon , Iyama Tetsuji , Yamasaki Shuhei , Azumi Kazuhisa
Published: January 2022

Carbon materials, such as graphene nanoflakes, carbon nanotubes, and fullerene, can be widely used to store hydrogen, and doping these materials with lithium (Li) generally increases their H2-storage densities. Unfortunately, Li is expensive; therefore, alternative metals are required to realize a hydrogen-based society. Sodium (Na) is an inexpensive element with chemical properties that are similar to those of lithium. In this study, we used density functional theory to systematically investigate how hydrogen molecules interact with Na-doped graphene nanoflakes. A graphene nanoflake (GR) was modeled by a large polycyclic aromatic hydrocarbon composed of 37 benzene rings, with GR-Na-(H2)n and GR-Na+-(H2)n (n = 0–12) clusters used as hydrogen storage systems. Data obtained for the Na system were compared with those of the Li system. The single-H2 GR-Li and GR-Na systems (n = 1) exhibited binding energies (per H2 molecule) of 3.83 and 2.72 kcal/mol, respectively, revealing that the Li system has a high hydrogen-storage ability. This relationship is reversed from n = 4 onwards; the Na systems exhibited larger or similar binding energies for n = 4–12 than the Li-systems. The present study strongly suggests that Na can be used as an alternative metal to Li in H2-storage applications. The H2-storage mechanism in the Na system is also discussed based on the calculated results.
Do Employee Stock Ownership Plans Affect Corporate Social Responsibility? Evidence from China
Authors: Zhou Lei , Wei Feng , Kong Yu
Published: January 2022

Few studies have discussed the relationship between employee stock ownership plans (ESOPs) and corporate social responsibility (CSR). Using a sample of 895 A-share public firms in China, this research examines the effects of ESOPs on CSR, and the moderating effects of wedge structure and firm size on this relationship. This research mainly used the OLS model to test the research hypotheses, and all regressions were performed in Stata15. The results show that the ESOPs of Chinese public firms provide external economic incentives and internal psychological incentives for employees, increase their motivation to engage in CSR activities, and ultimately contribute to CSR. At the same time, this research finds that this relationship is stronger for firms without wedge structure and small firms. This research provides insights for understanding the relationship between ESOPs and CSR and has important managerial implications for firms to pay attention to the interests of employees to achieve sustainable development.
Effects of Face Masks on Physical Performance and Physiological Response during a Submaximal Bicycle Ergometer Test
Authors: Steinhilber Benjamin , Seibt Robert , Gabriel Julia , Brountsou Joulia , Muljono Markus , Downar Tomasz , Bär Mona , Bonsch Rosina , Brandt Adrian , Martus Peter , Rieger Monika A.
Published: January 2022

The ongoing COVID-19 pandemic requires wearing face masks in many areas of our daily life; hence, the potential side effects of mask use are discussed. Therefore, the present study explores whether wearing a medical face mask (MedMask) affects physical working capacity (PWC). Secondary, the influence of a filtering facepiece mask with exhalation valve class 2 (FFP2exhal) and a cotton fabric mask (community mask) on PWC was also investigated. Furthermore, corresponding physiological and subjective responses when wearing face masks as well as a potential moderating role of subjects’ individual cardiorespiratory fitness and sex on face mask effects were analyzed. Thirty-nine subjects (20 males, 19 females) with different cardiorespiratory fitness levels participated in a standardized submaximal bicycle ergometer protocol using either a MedMask, FFP2exhal, community mask, or no mask (control) on four days, in randomized order. PWC130 and PWC150 as the mechanical load at the heart rates of 130 and 150 beats per minute were measured as well as transcutaneous carbon dioxide partial pressure, saturation of peripheral capillary oxygen, breathing frequency, blood pressure, perceived respiratory effort, and physical exhaustion. Using the MedMask did not lead to changes in PWC or physiological response compared to control. Neither appeared changes exceeding normal ranges when the FFP2exhal or community mask was worn. Perceived respiratory effort was up to one point higher (zero-to-ten Likert scale) when using face masks (p < 0.05) compared to control. Sex and cardiorespiratory fitness were not factors influencing the effects of the masks. The results of the present study provide reason to believe that wearing face masks for infection prevention during the COVID-19 pandemic does not pose relevant additional physical demands on the user although some more respiratory effort is required.
Urban Water Access and Use in the Kivus: Evaluating Behavioural Outcomes Following an Integrated WASH Intervention in Goma and Bukavu, Democratic Republic of Congo
Authors: Legge Hugo , Fedele Shahana , Preusser Florian , Stys Patrycja , Muzuri Papy , Schuberth Moritz , Dreibelbis Robert
Published: January 2022

Increasing the availability and reliability of community water sources is a primary pathway through which many water supply interventions aim to achieve health gains in communities with limited access to water. While previous studies in rural settings have shown that greater access to water is associated both with increased overall consumption of water and use of water for hygiene related activities, there is limited evidence from urban environments. Using data collected from 1253 households during the evaluation of a community water supply governance and hygiene promotion intervention in the cities of Goma and Bukavu, Democratic Republic of Congo, we conducted a secondary analysis to determine the impact of these interventions on household water collection and use habits. Using multiple and logistic regression models we compared differences in outcomes of interest between households in quartiers with and without the intervention. Outcomes of interest included litres per capita day (lpcd) of water brought to the household, lpcd used at the household, and lpcd used for hygiene-related activities. Results demonstrated that intervention households were more likely to use community tapstands than households located in comparison quartiers and collected on average 16.3 lpcd of water, compared with 13.5 lpcd among comparison households (adj. coef: 3.2, 95 CI: 0.84 to 5.53, p = 0.008). However, reported usage of water in the household for domestic purposes was lower among intervention households (8.2 lpcd) when compared with comparison households (9.4 lpcd) (adj. coef: −1.11, 95 CI: −2.29 to 0.07), p = 0.066) and there was no difference between study groups in the amount of water allocated to hygiene activities. These results show that in this setting, implementation of a water supply governance and hygiene promotion intervention was associated with a modest increase in the amount of water being bought to the household, but that this did not translate into an increase in either overall per capita consumption of water or the per capita amount of water being allocated to hygiene related activities.
Conservation Effects of Governance and Management of Sacred Natural Sites: Lessons from Vhutanda in the Vhembe Region, Limpopo Province of South Africa
Authors: Sinthumule Ndidzulafhi Innocent
Published: January 2022

Scholarly discourse on sacred natural sites (SNS) has focused on ecological significance, associated impacts and traditional practices as the instruments of resource governance and management. As a result, little scholarship has examined the role of spirits in governing and managing SNS; these are inhabited by deities or numina, commonly known as nature spirits. This study aims to provide evidence of the importance of governance by spirits as a prerequisite for protecting biophysical resources. Data were collected through semi-structured interviews and observation. The respondents were selected through a purposive sampling approach. The author also attended a funeral that was held at one of the SNS discussed in this article. The collected data were analysed through a thematic content analysis. The study shows that, for biodiversity to be protected, there should be a good relationship between humankind and the spirits. The spirits place behavioural demands on humankind involving the performance of rituals. Ritual behaviour empowers the spirits to be placed as owner of SNS and to guard against intruders. In return, humankind receives blessings, protection, patronage and governance. The governance by spirits is complemented by traditional practices. I conclude that governance by spirits should be recognised both locally and internationally.
Sources of Occupational Stress among Office Workers—A Focus Group Study
Authors: Bolliger Larissa , Lukan Junoš , Colman Elena , Boersma Leen , Luštrek Mitja , De Bacquer Dirk , Clays Els
Published: January 2022

Workplace stress remains a major interest of occupational health research, usually based on theoretical models and quantitative large-scale studies. Office workers are especially exposed to stressors such as high workload and time pressure. The aim of this qualitative research was to follow a phenomenological approach to identify work stressors as they are perceived by office workers. Six focus groups with office workers of different occupations were conducted in Belgium and Slovenia. A total of 39 participants were included in the study. We used the RQDA software for data processing and analysis and the seven job-quality indices of the European Working Conditions Survey (EWCS) to structure our findings. The results show that work intensity and social environment proved to be main stress categories, followed by skills and discretion, prospects, and working time quality. The physical environment and earnings were not covered in our results. We created organisational (structural/process-oriented and financial) stressors and office workers’ physical health as two additional categories since these topics did not fit into the EWCS. While our findings mainly confirm data from existing occupational stress literature and emphasise the multi-level complexity of work stress experiences, this paper suggests that there are relevant stressors experienced by office workers beyond existing quantitative frameworks.
The Impact of Air Pollution Perception on Urban Settlement Intentions of Young Talent in China
Authors: Yao Lianying , Li Xuewen , Zheng Rongrong , Zhang Yiye
Published: January 2022

In recent years, with the public paying more and more attention to the problem of air pollution, the impact of air quality on migration has gradually become a growing concern. However, in the current context of cities’ efforts to “attract talent” in China, research on the impact of air pollution on the flow or dwelling willingness of young talent is relatively limited. Based on the theory of planned behavior and from the perspective of subjective perception, this paper uses a regulated model to explore the impact mechanism of air pollution perception on young talent urban settlement intentions. Taking Hangzhou as a case, this study surveyed 987 individuals who were classified as young talent to explore the impact of air pollution perception on urban settlement intentions in China. The research shows that air pollution perception has a significant impact on young talent urban settlement intentions, and this impact is achieved through the intermediary effect of residential satisfaction. Place attachment of young talent to cities cannot significantly regulate the impact of air pollution perception on residential satisfaction, but it can significantly regulate the relationship between residential satisfaction and urban settlement intentions. That is to say, although place attachment cannot reduce the decline in residential satisfaction brought by air pollution perception, it can weaken the negative impact of air pollution perception on dwelling willingness through a decline in residential satisfaction. This paper contributes to a deeper understanding of the relationship between air quality and young talent settlement intentions.
Relationship between End-of-Life Care Stress, Death Anxiety, and Self-Efficacy of Clinical Nurses in South Korea
Authors: Choi Jihee , Gu Minkyung , Oh Sunyoung , Sok Sohyune
Published: January 2022

In South Korea, the number of cancer patients continues to rise, indicating that nurses have greater access to end-of-life care in clinical settings. This study examined the relationship between the end-of-life care stress, death anxiety, and self-efficacy of clinical nurses in South Korea. A cross-sectional descriptive design was used. Participants were 124 nurses working in university hospitals. Data included the general characteristics of study participants, end-of-life care stress, death anxiety, and self-efficacy. Data were collected from February to March 2021. This study shows that the degrees of end-of-life care stress and death anxiety of clinical nurses in South Korea were higher than the median values. Married nurses had higher self-efficacy than unmarried, and there was a difference between bedside and administrative nurses’ self-efficacy. Nurses with no experience of end-of-life care nursing education had higher death anxiety than nurses with experience. The higher the end-of-life care stress of nurses, the higher the death anxiety. The study suggests that therapeutic and detailed educational programs to reduce end-of-life care stress and death anxiety of clinical nurses are needed, and experimental research to verify this. The results can contribute to countries as an additional and enriching reference.
The Visual Attention and Psychological Responses from Older Customers to Wellness Service Pictures of Hotels
Authors: Wang Tsai-Chiao , Tang Ta-Wei , Tsai Chia-Liang
Published: January 2022

Understanding the visual attention and psychological responses of consumers to marketing pictures allows hotel managers to design more attractive advertisements. Therefore, the purposes of the present study were to use an eye-tracking analysis to explore whether there were different effects from tourist hotels’ wellness service pictures based on whether they had natural or built clues. The psychological responses with regard to perceived well-being and willingness to pay were also examined. Eighty-five older consumers were recruited. Their eye movement performance while observing marketing pictures with different visual clues and their subsequent psychological responses were measured. It was found that wellness service pictures with natural clues captured more visual attention and induced higher willingness-to-pay perceptions than those with built clues in these older consumers. The present results suggest that marketing pictures with natural clues may create positive visual responses in older customers and further enhance their purchase intention.
Public Health Regulations and Policies Dealing with Preparedness and Emergency Management: The Experience of the COVID-19 Pandemic in Italy
Authors: Aristei Luna , D’Ambrosio Floriana , Villani Leonardo , Rossi Maria Francesca , Daniele Alessandra , Amantea Carlotta , Damiani Gianfranco , Laurenti Patrizia , Ricciardi Walter , Gualano Maria Rosaria , Moscato Umberto
Published: January 2022

Worldwide, the management of health emergencies requires a high degree of preparedness and resilience on the part of governments and health systems. Indeed, disasters are becoming increasingly common, with significant health, social, and economic impacts. Living in a globalized world also means that emergencies that occur in one country often have an international, in some cases global, spread: the COVID-19 pandemic is a cogent example. The key elements in emergency management are central governance, coordination, investment of resources before the emergency occurs, and preparedness to deal with it at all levels. However, several factors might condition the response to the emergency, highlighting, as for Italy, strengths and weaknesses. In this context, policies and regulation of actions to be implemented at international and national level must be up-to-date, clear, transparent and, above all, feasible and implementable. Likewise, the allocation of resources to develop adequate preparedness plans is critical. Due to COVID-19 pandemic, the European Commission proposed the temporary recovery instrument NextGenerationEU, as well as a targeted reinforcement of the European Union’s long-term budget for the period 2021–2027. The pandemic highlighted that it is necessary to interrupt the continuous defunding of the health sector, allocating funds especially in prevention, training and information activities: indeed, a greater and more aware public attention on health risks and on the impacts of emergencies can help to promote virtuous changes, sharing contents and information that act as a guide for the population.
Decreasing Pasteurization Treatment Efficiency against Amoeba-Grown Legionella pneumophila—Recognized Public Health Risk Factor
Authors: Knežević Maša , Rončević Dobrica , Vukić Lušić Darija , Mihelčić Mirna , Kogoj Rok , Keše Darja , Glad Marin , Cenov Arijana , Ožanič Mateja , Glažar Ivče Daniela , Šantić Marina
Published: January 2022

Legionellae are gram-negative bacteria most commonly found in freshwater ecosystems and purpose-built water systems. In humans, the bacterium causes Legionnaires’ disease (LD) or a Pontiac fever. In this study, the different waters (drinking water, pool water, cooling towers) in which Legionella pneumophila has been isolated were studied to assess the possible risk of bacterial spreading in the population. The influence of physical and chemical parameters, and interactions with Acanthamoeba castellanii on L. pneumophila, were analyzed by Heterotrophic Plate Count, the Colony-forming units (CFU) methods, transmission electron microscopy (TEM), and Sequence-Based Typing (SBT) analysis. During the study period (2013–2019), a total of 1932 water samples were analyzed, with the average annual rate of Legionella-positive water samples of 8.9%, showing an increasing trend. The largest proportion of Legionella-positive samples was found in cooling towers and rehabilitation centers (33.9% and 33.3%, respectively). Among the isolates, L. pneumophila SGs 2–14 was the most commonly identified strain (76%). The survival of Legionella was enhanced in the samples with higher pH values, while higher electrical conductivity, nitrate, and free residual chlorine concentration significantly reduced the survival of Legionella. Our results show that growth in amoeba does not affect the allelic profile, phenotype, and morphology of the bacterium but environmental L. pneumophila becomes more resistant to pasteurization treatment.
The COVID-19 Pandemic Lowers Active Behavior of Patients with Cardiovascular Diseases, Healthy Peoples and Athletes
Authors: Kirsch Marine , Vitiello Damien
Published: January 2022

Aim: The paper aims to describe the impact of the increasing sedentary lifestyle due to the coronavirus disease-2019 (COVID-19) pandemic restrictions in patients with cardiovascular diseases (CVDs), healthy individuals, and athletes. Methods: A review of studies investigating the impact of the COVID-19 restrictions on patients with CVDs, healthy subjects, and athletes has been conducted in the PubMed, Medline, and Google Scholar medical databases. Results: The review highlighted the significant decrease of active behavior in patients with CVDs and mainly heart-failure patients, illustrated by a reduction of their daily steps and hours of being active during the COVID-19 pandemic. This review also enlightened a significant increase of the time spent in sedentary behavior and the sleep in healthy individuals. Finally, this review reported that the COVID-19 pandemic restrictions induced detraining periods in athletes, altering their health. These periods might also lead to a decrease of their future performances. Conclusions: Staying active and maintaining sufficient levels of physical activity during the COVID-19 pandemic are essential to preserve good health, despite the circumstances of quarantine. Alternatives such as completing a cardiac telerehabilitation for CVD patients or training at home for healthy subjects and athletes may be taken into consideration to maintain a regular active behavior in this sanitary context and potential future pandemics.
Expression Profile of Selected Genes Involved in Storage Lipid Synthesis in a Model Oleaginous Yeast Species Yarrowia lipolytica
Authors: Fabiszewska Agata , Paplińska-Goryca Magdalena , Misiukiewicz-Stępień Paulina , Wołoszynowska Małgorzata , Nowak Dorota , Zieniuk Bartłomiej
Published: January 2022

Yarrowia lipolytica yeast is a model species of the group of oleaginous microorganisms capable of intracellular lipids accumulation in an amount exceeding 20% of the dry mass. Single cell oil biosynthesis can follow one of two biochemical pathways—de novo accumulation of cellular lipids in medium containing non-lipid carbon sources (including saccharides, glycerol) and ex novo microbial oil synthesis which involves fatty acids uptake from the environment. The mRNA expression of selected genes of de novo and ex novo lipid synthesis pathways was analyzed and correlated with the phenotypically observed features. It was proved that the accumulation yield of storage lipids via ex novo pathway was to some extent dependent on the limitation of the nitrogen source in the medium. It was also proposed that the synthesis of intracellular lipids in lipid-rich medium proceeded mainly via ex novo pathway, although the activity of genes encoding the enzymes of the de novo pathway were not completely inhibited at the stage of transcription by fatty acids present in the medium (e.g., ATP-citrate lyase). Molecular markers of two biosynthesis routes has been outlined and a hypothetical connection point between de novo and ex novo route were indicated.
Quercetin Reduces Lipid Accumulation in a Cell Model of NAFLD by Inhibiting De Novo Fatty Acid Synthesis through the Acetyl-CoA Carboxylase 1/AMPK/PP2A Axis
Authors: Gnoni Antonio , Di Chiara Stanca Benedetta , Giannotti Laura , Gnoni Gabriele Vincenzo , Siculella Luisa , Damiano Fabrizio
Published: January 2022

Dysregulation of de novo lipogenesis (DNL) has recently gained strong attention as being one of the critical factors that contribute to the assessment of non-alcoholic fatty liver disease (NAFLD). NAFLD is often diagnosed in patients with dyslipidemias and type 2 diabetes; thus, an interesting correlation can be deduced between high hematic free fatty acids and glucose excess in the DNL dysregulation. In the present study, we report that, in a cellular model of NAFLD, the coexistence of elevated glucose and FFA conditions caused the highest cellular lipid accumulation. Deepening the molecular mechanisms of the DNL dysregulation—RT-qPCR and immunoblot analysis demonstrated increased expression of mitochondrial citrate carrier (CiC), cytosolic acetyl-CoA carboxylase 1 (ACACA), and diacylglycerol acyltransferase 2 (DGAT2) involved in fatty acids and triglycerides synthesis, respectively. XBP-1, an endoplasmic reticulum stress marker, and SREBP-1 were the transcription factors connected to the DNL activation. Quercetin (Que), a flavonoid with strong antioxidant properties, and noticeably reduced the lipid accumulation and the expression of SREBP-1 and XBP-1, as well as of their lipogenic gene targets in steatotic cells. The anti-lipogenic action of Que mainly occurs through a strong phosphorylation of ACACA, which catalyzes the committing step in the DNL pathway. The high level of ACACA phosphorylation in Que-treated cells was explained by the intervention of AMPK together with the reduction of enzymatic activity of PP2A phosphatase. Overall, our findings highlight a direct anti-lipogenic effect of Que exerted through inhibition of the DNL pathway by acting on ACACA/AMPK/PP2A axis; thus, suggesting this flavonoid as a promising molecule for the NAFLD treatment.
Xenobiotic-Induced Aggravation of Metabolic-Associated Fatty Liver Disease
Authors: Massart Julie , Begriche Karima , Corlu Anne , Fromenty Bernard
Published: January 2022

Metabolic-associated fatty liver disease (MAFLD), which is often linked to obesity, encompasses a large spectrum of hepatic lesions, including simple fatty liver, steatohepatitis, cirrhosis and hepatocellular carcinoma. Besides nutritional and genetic factors, different xenobiotics such as pharmaceuticals and environmental toxicants are suspected to aggravate MAFLD in obese individuals. More specifically, pre-existing fatty liver or steatohepatitis may worsen, or fatty liver may progress faster to steatohepatitis in treated patients, or exposed individuals. The mechanisms whereby xenobiotics can aggravate MAFLD are still poorly understood and are currently under deep investigations. Nevertheless, previous studies pointed to the role of different metabolic pathways and cellular events such as activation of de novo lipogenesis and mitochondrial dysfunction, mostly associated with reactive oxygen species overproduction. This review presents the available data gathered with some prototypic compounds with a focus on corticosteroids and rosiglitazone for pharmaceuticals as well as bisphenol A and perfluorooctanoic acid for endocrine disruptors. Although not typically considered as a xenobiotic, ethanol is also discussed because its abuse has dire consequences on obese liver.
Identification and Allele Combination Analysis of Rice Grain Shape-Related Genes by Genome-Wide Association Study
Authors: Meng Bingxin , Wang Tao , Luo Yi , Guo Ying , Xu Deze , Liu Chunhai , Zou Juan , Li Lanzhi , Diao Ying , Gao Zhiyong , Hu Zhongli , Zheng Xingfei
Published: January 2022

Grain shape is an important agronomic character of rice, which affects the appearance, processing, and the edible quality. Screening and identifying more new genes associated with grain shape is beneficial to further understanding the genetic basis of grain shape and provides more gene resources for genetic breeding. This study has a natural population containing 623 indica rice cultivars. Genome-wide association studies/GWAS of several traits related to grain shape (grain length/GL, grain width/GW, grain length to width ratio/GLWR, grain circumferences/GC, and grain size/grain area/GS) were conducted by combining phenotypic data from four environments and the second-generation resequencing data, which have identified 39 important Quantitative trait locus/QTLs. We analyzed the 39 QTLs using three methods: gene-based association analysis, haplotype analysis, and functional annotation and identified three cloned genes (GS3, GW5, OsDER1) and seven new candidate genes in the candidate interval. At the same time, to effectively utilize the genes in the grain shape-related gene bank, we have also analyzed the allelic combinations of the three cloned genes. Finally, the extreme allele combination corresponding to each trait was found through statistical analysis. This study’s novel candidate genes and allele combinations will provide a valuable reference for future breeding work.
ER Unfolded Protein Response in Liver In Vivo Is Characterized by Reduced, Not Increased, De Novo Lipogenesis and Cholesterol Synthesis Rates with Uptake of Fatty Acids from Adipose Tissue: Integrated Gene Expression, Translation Rates and Metabolic Fluxes
Authors: Ward Catherine P. , Peng Lucy , Yuen Samuel , Chang Michael , Karapetyan Rozalina , Nyangau Edna , Mohammed Hussein , Palacios Hector , Ziari Naveed , Joe Larry K. , Frakes Ashley E. , Dandan Mohamad , Dillin Andrew , Hellerstein Marc K.
Published: January 2022

The unfolded protein response in the endoplasmic reticulum (UPRER) is involved in a number of metabolic diseases. Here, we characterize UPRER-induced metabolic changes in mouse livers in vivo through metabolic labeling and mass spectrometric analysis of lipid and proteome-wide fluxes. We induced UPRER by tunicamycin administration and measured synthesis rates of proteins, fatty acids and cholesterol, as well as RNA-seq. Contrary to reports in isolated cells, hepatic de novo lipogenesis and cholesterogenesis were markedly reduced, as were mRNA levels and synthesis rates of lipogenic proteins. H&E staining showed enrichment with lipid droplets while electron microscopy revealed ER morphological changes. Interestingly, the pre-labeling of adipose tissue prior to UPRER induction resulted in the redistribution of labeled fatty acids from adipose tissue to the liver, with replacement by unlabeled glycerol in the liver acylglycerides, indicating that the liver uptake was of free fatty acids, not whole glycerolipids. The redistribution of adipose fatty acids to the liver was not explicable by altered plasma insulin, increased fatty acid levels (lipolysis) or by reduced food intake. Synthesis of most liver proteins was suppressed under UPRER conditions, with the exception of BiP, other chaperones, protein disulfide isomerases, and proteins of ribosomal biogenesis. Protein synthesis rates generally, but not always, paralleled changes in mRNA. In summary, this combined approach, linking static changes with fluxes, revealed an integrated reduction of lipid and cholesterol synthesis pathways, from gene expression to translation and metabolic flux rates, under UPRER conditions. The reduced lipogenesis does not parallel human fatty liver disease. This approach provides powerful tools to characterize metabolic processes underlying hepatic UPRER in vivo.
Intracellular Trafficking of Cationic Carbon Dots in Cancer Cell Lines MCF-7 and HeLa—Time Lapse Microscopy, Concentration-Dependent Uptake, Viability, DNA Damage, and Cell Cycle Profile
Authors: Havrdová Markéta , Urbančič Iztok , Tománková Kateřina Bartoň , Malina Lukáš , Poláková Kateřina , Štrancar Janez , Bourlinos Athanasios B.
Published: January 2022

Fluorescent carbon dots (CDs) are potential tools for the labeling of cells with many advantages such as photostability, multicolor emission, small size, rapid uptake, biocompatibility, and easy preparation. Affinity towards organelles can be influenced by the surface properties of CDs which affect the interaction with the cell and cytoplasmic distribution. Organelle targeting by carbon dots is promising for anticancer treatment; thus, intracellular trafficking and cytotoxicity of cationic CDs was investigated. Based on our previous study, we used quaternized carbon dots (QCDs) for treatment and monitoring the behavior of two human cancer cell MCF-7 and HeLa lines. We found similarities between human cancer cells and mouse fibroblasts in the case of QCDs uptake. Time lapse microscopy of QCDs-labeled MCF-7 cells showed that cells are dying during the first two hours, faster at lower doses than at higher ones. QCDs at a concentration of 100 µg/mL entered into the nucleus before cellular death; however, at a dose of 200 µg/mL, blebbing of the cellular membrane occurred, with a subsequent penetration of QCDs into the nuclear area. In the case of HeLa cells, the dose-depended effect did not happen; however, the labeled cells were also dying in mitosis and genotoxicity occurred nearly at all doses. Moreover, contrasted intracellular compartments, probably mitochondria, were obvious after 24 h incubation with 100 µg/mL of QCDs. The levels of reactive oxygen species (ROS) slightly increased after 24 h, depending on the concentration, thus the genotoxicity was likely evoked by the nanomaterial. A decrease in viability did not reach IC 50 as the DNA damage was probably partly repaired in the prolonged G0/G1 phase of the cell cycle. Thus, the defects in the G2/M phase may have allowed a damaged cell to enter mitosis and undergo apoptosis. The anticancer effect in both cell lines was manifested mainly through genotoxicity.
Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic
Authors: Simon Dylan , Broadbridge Elizabeth , Baker Mei , Gaviglio Amy , Gruber Dorota , Piper Kimberly Noble , Tavakoli Norma P. , Sullivan Jamie , Kennedy Annie
Published: January 2022

During the COVID-19 pandemic, state newborn screening programs faced challenges to ensure this essential public health program continued to function at a high level. In December 2020, the EveryLife Foundation for Rare Diseases held a workshop to discuss these common challenges and solutions. Newborn screening officials described challenges including short staffing across the entire program, collection and transport of specimens, interrupted follow-up activities, and pilot study recruitment. To address these challenges, state programs implemented a wide variety of solutions to maintain the high standards of newborn screening. To address staffing issues, newborn screening programs, public health laboratories, and hospitals all cross-trained personnel, worked to manage staff stress, and established essential functions. Other solutions included working with courier companies to ensure the timely pick-up of specimen, creating educational materials for hospital staff, and the creation of hybrid recruitment models for pilot studies. Implementing the lessons discussed throughout this paper can help to prepare for the next public health emergencies to ensure that a program that interacts with millions of families every year and saves the lives of thousands of children every year is minimally impacted.
Use of Local Ecological Knowledge on the Natural Recruitment of Bivalve Species of Commercial Exploitation in a Natura Area
Authors: Theodorou John A. , Akrivos Vasilis , Katselis George , Moutopoulos Dimitrios K.
Published: January 2022

The current study provides valuable insight into the ecological risks and decline of the bivalve fishery and biodiversity in the Amvrakikos Gulf over the last 50 years through a triangulation of information from in situ surveys and expert judgment, supplemented with historical archives. In situ sampling showed that bivalve species composition was a typical composition of benthic fauna consisting of the olive green cockle, Cerastoderma glaucum, the grooved carpet shell, Ruditapes decussatus, and the Mediterranean mussel, Mytilus galloprovincialis. Interviews confirmed the dramatic decrease in the abundance of striped venus clam, Chamelea gallina, and noble pen shell Pinna nobilis, both of which might be attributed to human-induced impacts, habitat degradation and climate change. Official data depicted a gradual reduction of bivalve catches since 1980 and massive degradation of the resources after 2000. As a result, the bivalve fishery was abandoned, having a negative impact on the local socio-economic community. The present study fills in a gap in knowledge for preserving species biodiversity that is critical to the health of the coastal environments.
Buckling of a Composite Cylindrical Shell with Cantilever-like Boundary Conditions under Hydrostatic Pressure
Authors: Shen Ke-Chun , Jiang Lei-Lei , Yang Zhao-Qi , Pan Guang
Published: January 2022

In this study, an analytical solution for the buckling of a composite cylindrical shell subjected to hydrostatic pressure is proposed. The boundary conditions of the composite cylindrical shell are cantilever-like, with one end fixed and the other end connected to a rigid disk. The differential equations are solved using the Galerkin method. The axial displacement of the shell is approximated by the first mode shape of the transverse vibration of the clamped sliding beam. The circumferential displacement and deflection are approximated by the first derivation of the beam function. Based on this solution, an analytical formula enabling prediction of the critical buckling pressure and buckling mode of composite orthotropic cylindrical shells is derived. A finite element analysis and external hydrostatic pressure test are conducted to verify the proposed approach. The efficiency and accuracy of the analytical solution in predicting the critical buckling pressure and buckling mode are demonstrated.
Application of Deep Neural Network to Predict the High-Cycle Fatigue Life of AISI 1045 Steel Coated by Industrial Coatings
Authors: Maleki Erfan , Unal Okan , Seyedi Sahebari Seyed Mahmoud , Reza Kashyzadeh Kazem , Danilov Igor
Published: January 2022

In this study, deep learning approach was utilized for fatigue behavior prediction, analysis, and optimization of the coated AISI 1045 mild carbon steel with galvanization, hardened chromium, and nickel materials with different thicknesses of 13 and 19 µm were used for coatings and afterward fatigue behavior of related specimens were achieved via rotating bending fatigue test. Experimental results revealed fatigue life improvement up to 60% after applying galvanization coat on untreated material. Obtained experimental data were used for developing a Deep Neural Network (DNN) modelling and accuracy of more than 99%.was achieved. Predicted results have a fine agreement with experiments. In addition, parametric analysis was carried out for optimization which indicated that coating thickness of 10–15 µm had the highest effects on fatigue life improvement.
Native Rhizospheric and Endophytic Fungi as Sustainable Sources of Plant Growth Promoting Traits to Improve Wheat Growth under Low Nitrogen Input
Authors: Mohamed Akram H. , Abd El-Megeed Fayrouz H. , Hassanein Naziha M. , Youseif Sameh H. , Farag Peter F. , Saleh Saleh A. , Abdel-Wahab Basel A. , Alsuhaibani Amnah Mohammed , Helmy Yosra A. , Abdel-Azeem Ahmed M.
Published: January 2022

Wheat crops require effective nitrogen fertilization to produce high yields. Only half of chemical N2 fertilizers are absorbed into plants while the rest remains in the soil, causing environmental problems. Fungi could maximize nitrogen absorption, and from an environmental and biodiversity point of view, there is an urgent necessity for bioprospecting native fungi associated with wild plants growing in harsh environments, e.g., St. Katherine Protectorate (SKP) in the arid Sinai. Recovered taxa, either endophytic and/or rhizospheric, were screened for their plant growth-promoting (PGP) traits. Eighteen fungal isolates (15 rhizospheric and 3 endophytic) belonging to anamorphic ascomycetes were recovered from 9 different wild plants, and their PGP traits (indole-3-acetic acid [IAA] production, phosphate solubilization, siderophore production, and hydrolytic enzyme production) were measured. Rhizospheric isolate NGB-WS14 (Chaetosphaeronema achilleae) produced high levels of IAA (119.1 μg mL−1) in the presence of tryptophan, while NGB-WS 8 (Acrophialophora levis) produced high IAA levels (42.4 μg mL−1) in the absence of tryptophan. The highest phosphate-solubilizing activity (181.9 μg mL−1) was recorded by NGB-WFS2 (Penicillium chrysogenum). Endophytic isolate NGB-WFE16 (Fusarium petersiae) exhibited a high percentage level of Siderophore Unit (96.5% SU). All isolates showed variability in the secretion of extracellular hydrolytic enzymes. Remarkably, all isolates had antagonistic activity (55.6% to 87.3% suppression of pathogen growth) against the pathogenic taxon Alternaria alternata (SCUF00001378) in the dual-assay results. Out of the 18 isolates, 4 rhizospheric and 1 endophytic isolate showed significant increases in shoot dry weight and shoot nitrogen and chlorophyll content of wheat plants subjected to low inputs of chemical nitrogen (N) fertilizers (50% reduction) compared with the non-inoculated control in a pot experiment. Potent taxa were subjected to sequencing for molecular confirmation of phenotypic identification. The retrieved ITS sequences in this study have been deposited in GenBank under accession numbers from LC642736 to LC642740. This study considered the first report of endophytic fungi of Cheilanthes vellea, a wild plant with PGPF which improves wheat growth. These results recommend using PGPF as inoculants to alleviate low nitrogen fertilization.