bluuebunny/crossref_metadata_2025 huggingface dataset:
Refractive outcomes of table-mounted and hand-held auto-refractometers in children: an observational cross-sectional study
Authors: Karabulut Müjdat , Karabulut Sinem , Karalezli Aylin
Published: December 2021

Background

To compare the refractive results of hand-held and table-mounted autorefractors.

Methods

We designed this study as an observational, cross-sectional study. We compared the mean spheric and cylinder power, spherical equivalent, Jackson cross-cylinder values, determined the limits of agreement (LoA), and evaluated the reliability of two autorefractors.

Results

We evaluated 256 eyes of 256 pediatric patients (mean age, 9.12 ± 2.26 years; range, 5–16 years). 49% of the patients were female, and 51% were male. The Nidek HandyRef-K autorefractor measured relatively more astigmatism (P < 0.001) and less hyperopia (P = 0.024). The mean differences and 95% LoA were 0.06 D ± 0.47 D (− 0.82 D to 0.98 D) in spherical power, 0.08 D ± 0.28 D (− 0.47 D to 0.64 D) in cylindrical power, 0.11 D ± 0.47 D (− 0.81 D to 1.01 D) in spherical equivalent, 0.02 D ± 0.36 D (− 0.73 D to 0.69 D) in Jackson cross-cylinder power at 0°, 0.005 D ± 0.54 D (− 1.07 D to 1.06 D) in Jackson cross-cylinder power at 45°. We found the difference within 0.50 D in 244 (95%) eyes for spherical power, in 245 (96%) eyes for cylindrical power, 228 (89%) eyes for spherical equivalent, 224 (87%) eyes for Jackson cross-cylinder power at 0°, 213 (83%) eyes for Jackson cross-cylinder power at 45°. When comparing devices, there were strong correlations for spherical power (Spearman’s rho = 0.99, P < 0.001), cylindrical power (Spearman’s rho = 0.88, P < 0.001), and spherical equivalent (Spearman’s rho = 0.98, P < 0.001).

Conclusion

Two autorefractors showed clinically applicable agreement limits; excellent reliability for spherical power and spherical equivalent and good reliability for cylindrical power; high positive percent agreement for spherical and cylindrical power, spherical equivalent, Jackson cross-cylinder power at 0°and 45°. These results showed that both devices might be used interchangeably for screening of refractive error in children.
Case report : a novel ASXL3 gene variant in a Sudanese boy
Authors: Wu Ke , Cong Yan
Published: December 2021

Background

Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese boy with severe developmental delay, intellectual disability, and craniofacial phenotype using trio-based whole-exome sequencing. To our knowledge, no patients with ASXL3 gene variant c.3043C>T have been reported detailedly in literature.

Case presentation

The patient (male, 3 years 6 months) was the first born of a healthy non-consanguineous couple originating from Sudan, treated for “psychomotor retardation” for more than 8 months in Yiwu. The patient exhibited severely delayed milestones in physiological and intellectual developmental stages, language impairment, poor eye-contact, lack of subtle motions of fingers, fear of claustrophobic space, hypotonia, clinodactyly, autistic features. Peripheral blood samples were collected from the patient and his parents. Trio-based whole-exome sequencing(Trio-WES) identified a de novo heterozygous ASXL3 gene variant c.3043C>T;p.Q1015X. Sanger sequencing verified variants of this family.

Conclusion

Trio-WES analysis identified a de novo nonsense variant (c.3043C>T) of ASXL3 gene in a Sudanese boy. To our knowledge, the patient with this variant has not been reported previously in literature. This study presents a new case for ASXL3 gene variants, which expanded the mutational and phenotypic spectrum.
Clinical features of respiratory syncytial virus bronchiolitis in an infant: rapid and fatal brain involvement
Authors: Bottino Paolo , Miglino Rebecca , Pastrone Lisa , Barbui Anna Maria , Botta Giovanni , Zanotto Elisa , Sidoti Francesca , Costa Cristina , Cavallo Rossana
Published: December 2021

Background

Respiratory Syncytial Virus (RSV) infection is a significant cause of bronchiolitis and pneumonia, mostly responsible for hospitalization and infant death worldwide. However, in recent years the importance of extrapulmonary RSV manifestations, especially at neurological level, have become evident. Seizures, lethargy, ataxia and status epilepticus are suggestive of brain involvement, but also in their absence a direct neurological damage RSV-related need to be evaluated.

Case presentation

A 40-day old male infant was admitted to the Emergency Department with severe bronchiolitis and dyspnea. The patient was reported to be coughing for a week with a vomiting episode in the previous two days. The nasopharyngeal swab confirmed the diagnosis of RSV infection and blood gas test showed hypoxemia and respiratory acidosis. For these reasons, the patient was provided with oxygen therapy. A few hours later, after an initial improvement in clinical parameters, a worsening of respiratory dynamics occurred and the patient was prepared for endotracheal intubation, but in the meantime death occurred. During all the observation period in the Emergency Room, no signs of neuropathological damage were evident. Post mortem examination showed lungs congestion with alveolar atelectasis and white matter degradation with severe edema at brain level. Microbiological analysis performed on autoptic samples confirmed the presence of RSV genome in tracheobronchial aspirate, meningeal swabs, pericardic and abdominal fluids, lung and brain biopsies.

Conclusions

RSV is usually associated with respiratory diseases, however, as reported by an increasingly number of studies, the systemic dissemination of virus during severe disease can lead to a sudden infant death. The clinical picture herein reported showed a severe bronchiolitis resulting in a fatal and underestimated cerebral involvement due to RSV neurotropic behaviour and underline the need for clinicians to pay more attention to neurological involvement of RSV infection, even in absence of cerebral damage evidence.
Epidemiological features of COVID-19 patients with prolonged incubation period and its implications for controlling the epidemics in China
Authors: Zhang Zhi-Jie , Che Tian-Le , Wang Tao , Zhao Han , Hong Jie , Su Qing , Zhang Hai-Yang , Zhou Shi-Xia , Teng Ai-Ying , Zhang Yuan-Yuan , Yang Yang , Fang Li-Qun , Liu Wei
Published: December 2021

Background

COVID-19 patients with long incubation period were reported in clinical practice and tracing of close contacts, but their epidemiological or clinical features remained vague.

Methods

We analyzed 11,425 COVID-19 cases reported between January–August, 2020 in China. The accelerated failure time model, Logistic and modified Poisson regression models were used to investigate the determinants of prolonged incubation period, as well as their association with clinical severity and transmissibility, respectively.

Result

Among local cases, 268 (10.2%) had a prolonged incubation period of > 14 days, which was more frequently seen among elderly patients, those residing in South China, with disease onset after Level I response measures administration, or being exposed in public places. Patients with prolonged incubation period had lower risk of severe illness (ORadjusted = 0.386, 95% CI: 0.203–0.677). A reduced transmissibility was observed for the primary patients with prolonged incubation period (50.4, 95% CI: 32.3–78.6%) than those with an incubation period of ≤14 days.

Conclusions

The study provides evidence supporting a prolonged incubation period that exceeded 2 weeks in over 10% for COVID-19. Longer monitoring periods than 14 days for quarantine or persons potentially exposed to SARS-CoV-2 should be justified in extreme cases, especially for those elderly.
COVID-19 and medical education in Africa: a cross sectional analysis of the impact on medical students
Authors: Bernard Alec , Indig Gnendy , Byl Nicole , Abdu Amani Nureddin , Mengesha Dawit Tesfagiorgis , Admasu Bereket Alemayehu , Holman Elizabeth
Published: December 2021

Background

The African continent currently experiences 25% of the global burden of disease with only 1.3% of the world’s healthcare workers. The COVID-19 pandemic has caused unprecedented disruption to medical education systems, increasing the strain on already-vulnerable regions. Our study examines the impact of COVID-19 on medical students across 33 countries in the African continent.

Methods

A 39-item anonymous electronic survey was developed and distributed to medical students across Africa through social networks to assess the impact of the COVID-19 pandemic on medical education. The survey assessed the domains of: class structure changes and timing, patient interactions, exam administration, learning environment satisfaction, mental health impacts, and volunteer opportunities/engagement.

Results

694 students across 33 countries participated. 80% of respondents had their classes suspended for varied lengths of time during the pandemic, and from these students 59% of them resumed their classes. 83% of students felt they were in a supportive learning environment before the pandemic, which dropped to 32% since the start. The proportion of students taking exams online increased (6–26%, p<0.001) and there was a decrease in the proportion of students seeing patients as a part of their education (72–19%, p<0.001).

Conclusions

COVID-19 is harming medical students in Africa and is likely to worsen the shortage of the future’s healthcare workforce in the region. Pandemic-related impacts have led to a degradation of the learning environment of medical students. Medical schools have shifted online to differing degrees and direct patient-care in training of students has decreased. This study highlights the urgent need for flexible and innovative approaches to medical education in Africa.
A multidimensional study of public satisfaction with the healthcare system: a mixed-method inquiry in Ghana
Authors: Amoah Padmore Adusei , Nyamekye Kingsley Atta , Owusu-Addo Ebenezer
Published: December 2021

Background

Many governments in sub-Saharan Africa have recently sought to improve their health systems by increasing investment in healthcare facilities and introducing social insurance programmes. However, little is known about the impact of these intended improvements on public perceptions about the healthcare systems. This article examines whether and why people of different socioeconomic and ideological backgrounds are satisfied (or not) with the current healthcare system in Ghana from a social ecological perspective.

Method

Data were elicited from a cross-sectional mixed-method study conducted in four regions in Ghana in 2018. We used ordinal logistic regression and thematic analysis techniques to analyse the data.

Results

Satisfaction with the healthcare system was generally low. From our quantitative study, intrapersonal factors (e.g., being older and having good health and well-being status); interpersonal factors (e.g., linking social capital); community factors (e.g., living in rural areas); and organisational and public policy factors (e.g., trust in the health system, favouring welfare policies, and being interested in politics) were positively associated with satisfaction with the healthcare system. These were corroborated by the qualitative study, which showed that poor attitudes of health personnel, financial constraints, perceived poor health facilities, and perceived inefficacy of services contribute to dissatisfaction with the healthcare system.

Conclusion

Strategies to improve satisfaction with the healthcare system in Ghana should incorporate ecological perspectives by considering factors such as demographic profile, health needs, political orientation, issues of trust in the healthcare system, and the dynamics and impact of social relationships of populations concerned.
Ketone bodies: from enemy to friend and guardian angel
Authors: Kolb Hubert , Kempf Kerstin , Röhling Martin , Lenzen-Schulte Martina , Schloot Nanette C. , Martin Stephan
Published: December 2021

During starvation, fasting, or a diet containing little digestible carbohydrates, the circulating insulin levels are decreased. This promotes lipolysis, and the breakdown of fat becomes the major source of energy. The hepatic energy metabolism is regulated so that under these circumstances, ketone bodies are generated from β-oxidation of fatty acids and secreted as ancillary fuel, in addition to gluconeogenesis. Increased plasma levels of ketone bodies thus indicate a dietary shortage of carbohydrates. Ketone bodies not only serve as fuel but also promote resistance to oxidative and inflammatory stress, and there is a decrease in anabolic insulin-dependent energy expenditure. It has been suggested that the beneficial non-metabolic actions of ketone bodies on organ functions are mediated by them acting as a ligand to specific cellular targets. We propose here a major role of a different pathway initiated by the induction of oxidative stress in the mitochondria during increased ketolysis. Oxidative stress induced by ketone body metabolism is beneficial in the long term because it initiates an adaptive (hormetic) response characterized by the activation of the master regulators of cell-protective mechanism, nuclear factor erythroid 2-related factor 2 (Nrf2), sirtuins, and AMP-activated kinase. This results in resolving oxidative stress, by the upregulation of anti-oxidative and anti-inflammatory activities, improved mitochondrial function and growth, DNA repair, and autophagy. In the heart, the adaptive response to enhanced ketolysis improves resistance to damage after ischemic insults or to cardiotoxic actions of doxorubicin. Sodium-dependent glucose co-transporter 2 (SGLT2) inhibitors may also exert their cardioprotective action via increasing ketone body levels and ketolysis. We conclude that the increased synthesis and use of ketone bodies as ancillary fuel during periods of deficient food supply and low insulin levels causes oxidative stress in the mitochondria and that the latter initiates a protective (hormetic) response which allows cells to cope with increased oxidative stress and lower energy availability.

Keywords

Ketogenic diet, Ketone bodies, Beta hydroxybutyrate, Insulin, Obesity, Type 2 diabetes, Inflammation, Oxidative stress, Cardiovascular disease, SGLT2, Hormesis
Pak2 reduction induces a failure of early embryonic development in mice
Authors: Zeng Juan , Liu Nengqing , Yang Yinghong , Cheng Yi , Li Yuanshuai , Guo Xiaoxia , Luo Qian , Zhu Lifen , Guan Hongmei , Song Bing , Sun Xiaofang
Published: December 2021

Background

The quality of the early embryo is vital to embryonic development and implantation. As a highly conserved serine/threonine kinase, p21-activated kinase 2 (Pak2) participates in diverse biologic processes, especially in cytoskeleton remodeling and cell apoptosis. In mice, Pak2 knock out and endothelial depletion of Pak2 showed embryonic lethality. However, the role of Pak2 in preimplantation embryos remains unelucidated.

Methods

In the present work, Pak2 was reduced using a specific small interfering RNA in early mouse embryos, validating the unique roles of Pak2 in spindle assembly and DNA repair during mice early embryonic development. We also employed immunoblotting, immunostaining, in vitro fertilization (IVF) and image quantification analyses to test the Pak2 knockdown on the embryonic development progression, spindle assembly, chromosome alignment, oxidative stress, DNA lesions and blastocyst cell apoptosis. Areas in chromatin with γH2AX were detected by immunofluorescence microscopy and serve as a biomarker of DNA damages.

Results

We found that Pak2 knockdown significantly reduced blastocyst formation of early embryos. In addition, Pak2 reduction led to dramatically increased abnormal spindle assembly and chromosomal aberrations in the embryos. We noted the overproduction of reactive oxygen species (ROS) with Pak2 knockdown in embryos. In response to DNA double strand breaks (DSBs), the histone protein H2AX is specifically phosphorylated at serine139 to generate γH2AX, which is used to quantitative DSBs. In this research, Pak2 knockdown also resulted in the accumulation of phosphorylated γH2AX, indicative of increased embryonic DNA damage. Commensurate with this, a significantly augmented rate of blastocyst cell apoptosis was detected in Pak2-KD embryos compared to their controls.

Conclusions

Collectively, our data suggest that Pak2 may serve as an important regulator of spindle assembly and DNA repair, and thus participate in the development of early mouse embryos.
The Selah study protocol of three interventions to manage stress among clergy: a preference-based randomized waitlist control trial
Authors: Tice Logan C. , Eagle David E. , Rash Joshua A. , Larkins Jessie S. , Labrecque Sofia M. , Platt Alyssa , Yao Jia , Proeschold-Bell Rae Jean
Published: December 2021

Introduction

Like many helping professionals in emotional labor occupations, clergy experience high rates of mental and physical comorbidities. Regular stress management practices may reduce stress-related symptoms and morbidity, but more research is needed into what practices can be reliably included in busy lifestyles and practiced at a high enough level to meaningfully reduce stress symptoms.

Methods and analysis

The overall design is a preference-based randomized waitlist control trial. United Methodist clergy in North Carolina will be eligible to participate. The intervention and waitlist control groups will be recruited by email. The interventions offered are specifically targeted to clergy preference and include mindfulness-based stress reduction, Daily Examen, and stress inoculation training. Surveys will be conducted at 0, 12, and 24 weeks with heart rate data collected at 0 and 12 weeks. The primary outcomes for this study are self-reported symptoms of stress and heart rate at week 12 for each intervention compared to waitlist control; the secondary outcome is symptoms of anxiety comparing each intervention vs waitlist control.

Ethics and dissemination

Ethical approval was obtained from the Duke University Campus IRB (2019-0238). The results will be made available to researchers, funders, and members of the clergy community.

Strengths and limitations of this study

While evidence-based stress reduction practices such as mindfulness-based stress reduction (MBSR) exist, a wider variety of practices should be tested to appeal to different individuals.

Clergy in particular may prefer, and consequently enact, spiritual practices like the Daily Examen, and individuals such as clergy who spend most of their time thinking and feeling may prefer experiential-based practices like stress inoculation training.

If efficacious, the Daily Examen and stress inoculation training practices have high feasibility in that they require few minutes per day.

This study is limited by the inclusion of Christian clergy of only one denomination.

Trial registration

ClinicalTrials.gov NCT04625777. November 12, 2020.
Study on Deterioration Characteristics and Fracturing Mechanism of Concrete Under Liquid Nitrogen Cold Shock
Authors: Liu Jialiang , Jin Yu , Zhu Yujie , Li Jinyang , Zhang Xuguang , Tao Chao
Published: December 2021

High-pressure water jet crushing concrete has significant advantages in safety, quality and environmental protection, which has a broad application prospect in the maintenance and reconstruction of concrete building. Nevertheless, it still has some problems such as high threshold pump pressure and large specific energy consumption. Water jet breaking concrete with liquid nitrogen (LN2) cold shock assistance combined with the low-temperature-induced fracturing and hydraulic impact can effectively reduce the working pressure of water jet and improve the energy utilization rate. On account of the unclear cracking characteristics and mechanism of concrete under the LN2 cold shock, this research carried out the following systematic research focusing on the key scientific issues above based on mechanical tests, scanning electron microscopy (SEM), and nuclear magnetic resonance (NMR). Results indicate that the total mass of concrete exfoliated blocks after compression failure increases as the LN2 cold shock time and the number of shock cycles goes up, and the uniaxial compressive strength decreases from 8.27 to 21.96%. Through SEM and NMR analysis, it is found that LN2 cold shock can cause more micro-cracks to develop inside the concrete, and the pore development increases as the cold shock time and the cycle number increase. Additionally, under the condition of water jet pump pressure of 150 MPa, the maximum width and depth of crater for cold shock of 5 min increase by 41.79% and 20.48%, respectively, and those for cold shock of 10 min increase by 76.72% and 40.43%, respectively, compared with the original sample.
A case of primary malignant melanoma of the esophagogastric junction with abscopal effect after nivolumab administration
Authors: Yamaguchi Takahisa , Fushida Sachio , Kinoshita Jun , Saito Hiroto , Shimada Mari , Terai Shiro , Moriyama Hideki , Okamoto Koichi , Nakamura Keishi , Ninomiya Itasu , Inaki Noriyuki
Published: December 2021

Background

The abscopal effect is a rare phenomenon in which local irradiation causes tumor regression outside the irradiated area. There have been no reports of abscopal effect in patients with gastrointestinal melanoma with metastasis. Here, we report a case of primary malignant melanoma of the esophagogastric junction with abscopal effect after long-term treatment with nivolumab.

Case presentation

A 75-year-old woman was referred to our hospital with a gastroesophageal lesion. Upper gastrointestinal endoscopy revealed a raised lesion on the posterior wall of the greater curvature of the cardia and tenderness in the lower esophagus. Immunostaining of the tumor biopsy showed positive staining for Melan-A, human melanoma black-45 (HMB45), and S-100, indicating malignant melanoma of the esophagogastric junction. Contrast-enhanced computed tomography (CT) of the abdomen showed a mildly stained lesion protruding into the cardiac part of stomach and enlarged surrounding lymph nodes. The patient was diagnosed with malignant melanoma of the esophagogastric junction and proximal gastrectomy with lower esophagus resection was performed. Histological examination showed large, round tumor cells with nuclear atypia. Immunostaining was positive for Melan A, HMB45, S-100 protein, and SRY-box transcription factor 10, and the final diagnosis was malignant melanoma of the esophagogastric junction, with regional lymph node metastases. Three months after surgery, follow-up CT indicated left pleural metastasis; therefore, the patient was administered nivolumab, an immune checkpoint inhibitor (ICI). Following three courses of nivolumab, the patient exhibited grade 3 renal dysfunction (Common Terminology Criteria for Adverse Events version 5.0). After that, we have not administered nivolumab treatment. Five months after the development of renal dysfunction, a CT scan demonstrated an unstained nodule within the pancreatic, and the patient was diagnosed with pancreatic metastasis; intensity-modulated radiotherapy was performed. Six months later, CT revealed pancreatic nodule and pleural metastasis was shrunk; after an additional 2 months, pleural metastasis and effusion had disappeared. The patient is alive with no additional lesions.

Conclusions

We report a case of primary malignant melanoma of the esophagogastric junction with an abscopal effect following nivolumab treatment. The findings of this case report suggest that ICIs in combination with radiotherapy may be effective for treating metastatic or recurrent malignant melanoma of the gastrointestinal tract.
Polish immigrants and their children in Canada and Sweden, employment status and income patterns
Authors: Pendakur Ravi , Bevelander Pieter
Published: December 2021

Using a combination of logit, and OLS regressions we ask if the labour force outcomes for Polish immigrants differ across two immigration policy regimes (Canada and Sweden). Specifically, we compare the employment and earnings prospects of Polish immigrants and their children in Canada and Sweden using data that is similar in quality and timing. We find that in general, Polish immigrants, while facing substantial penalties compared to native-born workers fare better in Canada than in Sweden in terms of employment and income. As expected, second generation Poles fare much better than their immigrant counterparts in terms of employment and earnings differentials and have similar outcomes to the native-born majority in both countries. Membership in the EU fundamentally changed migration flows from Poland. In light of this we also look at how post-2004 Polish migrants have fared in both Canada and Sweden.
Morphological variables restrict flower choice of Lycaenid butterfly species: implication for pollination and conservation
Authors: Mukherjee Subha Shankar , Hossain Asif
Published: December 2021

Background

Butterflies make an important part for plant-pollinator guild. These are nectar feeder or occasionally pollen feeder and thus proboscis of the butterfly species are considered as one of the most important variable in relation to the collection of food from plants. In butterfly-plant association, nectar source is principally determined by quality of nectar, corolla length, and nectar quantity. For the butterfly, nectar uptake is determined by proboscis length because flowers with long corolla restrict butterfly species containing shorter proboscis. Empirical studies proved that butterfly species with high wing loading visit clustered flowers and species with low wing loading confined their visit to solitary or less nectar rich flowers. The present study tries to investigate the flower preference of butterfly species from Lycaenidae family having very short proboscis, lower body length, lower body weight and wing span than the most species belonging from Nymphalidae, Pieridae, Papilionidae, and Hesperiidae.

Results

Butterflies with shorter proboscis cannot access nectar from deeper flower. Although they mainly visit on less deeper flower to sucking nectar, butterflies with high wing loading visits clustered flowers to fulfill their energy requirements. In this study, we demonstrated flower choice of seven butterfly species belonging to Lycanidiae family. The proboscis length maintains a positive relationship with body length and body weight. Body length maintains a positive relationship with body weight and wing span. Wing span indicate a strong positive relationship with body weight. This study proved that these seven butterfly species namely Castalius rosimon (CRN), Taracus nara (TNA), Zizinia otis (ZOT), Zizula hylax (ZHY), Jamides celeno (JCE), Chilades laius (CLA), and Psuedozizeeria maha (PMA) visit frequently in Tridax procumbens (TPR), Ocimum americanum (OAM) and Syndrella nodiflora (SNO). The species do not visit Lantana camara (LCA) and Catharanthus roseus (CRO) plants.

Conclusion

The present study proved that butterfly species visits frequently in Tridax procumbens (TPR), Ocimum americanum (OAM) but less frequently in Syndrella nodiflora (SNO). So, that study determined the butterfly species helps in pollination of these herbs that in turn helps the conservation of these butterfly species.
Honey bees and their brood: a potentially valuable resource of food, worthy of greater appreciation and scientific attention
Authors: Ghosh Sampat , Meyer-Rochow Victor Benno , Jung Chuleui
Published: December 2021

Despite the consumption of bee brood in several parts of the world, particularly in the tropical areas, the practice has received comparatively little attention. We have reviewed all the available information on the nutrient composition and functional properties of different developmental stages of honey bee workers belonging to different species and subspecies. Noticing the competent nutrient composition of, in particular, honey bee brood, pupae, and prepupae, we suggest that they could be a potential source of human nutrition as well as animal feed. Moreover, drone brood is an ideal candidate for use as a food or as food ingredient. However, to analyze the functional properties of different honey bee species remains a task for further analysis.
Serum Dickkopf-1 as a potential prognostic marker in patients with rheumatoid arthritis
Authors: Ali Dina A. , Esmail Doaa Mohamed , Mohammed Haidy Ali , Yonis Reham Lotfy , El-Sharaby Radwa Mahmoud
Published: December 2021

Background

Rheumatoid arthritis (RA) is a disease of an autoimmune nature that involves all types of joints structures and manifested by chronic joints inflammations and thus their erosions and damage. Dickkopf-1 (DKK-1) is a molecule that has an inhibitory regulation of wingless/integrated genes (Wnt) pathway and has a major role in models of animals with arthritis or joint destruction. Increased DKK-1 levels are implicated in higher resorption of the bone in cases of rheumatoid arthritis and thus with higher probability for joint deformities, while low levels associated with formation of new bone by osteoblasts, we aimed to study the prognostic role of circulating Dickkopf-1 in rheumatoid arthritis.

Results

The present study revealed that the DKK-1 levels were significantly increased in RA patients in relation to the control group (P=0.001). We found a significant positive correlation between DKK-1 level and ESR (P=0.001), Disease Activity Score (DAS 28) (P=0.001), the disease duration (P=0.001), and the presence of bone erosions in plain X-ray of hands (P =0.001). Moreover, we revealed that, at cutoff value 2150, the DKK-1 in RA has 90% sensitivity and 85% specificity.

Conclusions

DKK-l serum level can be used as a potential prognostic biomarker for monitoring of joint erosions and destruction in RA patients. Furthermore, it could be a possible target molecule in the future therapy to control the process of joint destruction.
MG2C: a user-friendly online tool for drawing genetic maps
Authors: Chao Jiangtao , Li Zhiyuan , Sun Yuhe , Aluko Oluwaseun Olayemi , Wu Xinru , Wang Qian , Liu Guanshan
Published: December 2021

Genetic map is a linear arrangement of the relative positions of sites in the chromosome or genome based on the recombination frequency between genetic markers. It is the important basis for genetic analysis. Several kinds of software have been designed for genetic mapping, but all these tools require users to write or edit code, making it time-costing and difficult for researchers without programming skills to handle with. Here, MG2C, a new online tool was designed, based on PERL and SVG languages.

Users can get a standard genetic map, only by providing the location of genes (or quantitative trait loci) and the length of the chromosome, without writing additional code. The operation interface of MG2C contains three sections: data input, data output and parameters. There are 33 attribute parameters in MG2C, which are further divided into 8 modules. Values of the parameters can be changed according to the users’ requirements. The information submitted by users will be transformed into the genetic map in SVG file, which can be further modified by other image processing tools.

MG2C is a user-friendly and time-saving online tool for drawing genetic maps, especially for those without programming skills. The tool has been running smoothly since 2015, and updated to version 2.1. It significantly lowers the technical barriers for the users, and provides great convenience for the researchers.
Assessment of the optimal level of basalt pozzolana blended cement replacement against concrete performance
Authors: Moawad Mohamed S. , Younis Shimaa , Ragab Abd EL- Rahman
Published: December 2021

Different additional cementitious materials can be used to partially replace cement in concrete. these are used in concrete as a partial replacement for cement to reduce the effect of environmental pollution, which can lead to serious health issues. Therefore, it is critical to use locally available pozzolanic materials as a partially replacement for cement because these materials are less expensive than Portland cement and are more environmentally friendly without sacrificing concrete quality. Pozzolana made from basalt natural material was tested for the best amount of weight percentage replacement as a blinding component in cements in this study. Various percentage of basalt as a partial replacement weight percentage of ordinary Portland cement by 7.5%, 15%, and 22.5% is carried out. effect of basalt on workability, setting time, compressive strength, modulus of elasticity, tensile strength, flexural strength, and water absorption were conducted. The parameters were studied and monitored by tested a fresh and hardened concrete samples at ages of 7 days, 28 days, 56 days, and 90 days. Based on the test results, it is concluded that the optimal content of basalt as replacement of ordinary Portland cement in concrete mix is 15%.
Executive Dysfunction and the Prefrontal Cortex
Authors: Jones David T. , Graff-Radford Jonathan
Published: December 2021

PURPOSE OF REVIEW

This article summarizes the cognitive and behavioral functions of the prefrontal cortex with an emphasis on executive cognitive functions and the clinical consequences associated with executive dysfunction. The clinical manifestations of lesions to the lateral prefrontal, orbitofrontal, medial prefrontal, and frontopolar cortex are reviewed.

RECENT FINDINGS

Traditional lesion studies have emphasized the role of a brain region in controlling a cognitive function. With advances in neurology, neuropsychology, and neuroimaging, the participation of the prefrontal cortex in large-scale networks has been established with recognition that cognitive dysfunction can arise not only from a lesion within a network but also from degenerative disease targeting these large-scale, dynamic neural networks. Although executive dysfunction can result from frontal lobe injury, this article highlights the role of distributed processes subserving executive functions. An atypical phenotype of Alzheimer disease has been described that selectively targets parietal-temporal-frontal networks important for core executive functions.

Executive function comprises working memory, cognitive flexibility, and inhibition and depends on top-down (ie, goal-driven) control of distributed processes occurring throughout the brain. The exact behavioral output (ie, function) depends on the content of the processes being controlled. Prefrontal cortex regions serve key cognitive functions related to social, emotional, and motivational aspects of behavior. The dorsal lateral prefrontal cortex plays a role in working memory, goal-driven attention, task switching, planning, problem-solving, and novelty-seeking. The ventral lateral prefrontal cortex plays a role in inhibition, response selection, and monitoring; the medial prefrontal cortex in self-knowledge, motivation, emotional regulation, and updating goal-directed behavior; the orbitofrontal cortex in personality, inhibition, and emotional and social reasoning. Although dysexecutive syndromes have been traditionally associated with dorsolateral prefrontal cortex injury, it is now recognized that they can also result from an impaired parietal-temporal-frontal system, which is targeted in a distinct form of atypical Alzheimer disease. This dysexecutive Alzheimer phenotype is characterized by impaired task performance on a wide battery of neuropsychological tests and simple daily tasks that require executive control. In contrast, dysexecutive syndromes more localized to the frontal lobe involve impaired executive control of social, emotional, and motivational aspects of behavior.
Abnormal brain development of monoamine oxidase mutant zebrafish and impaired social interaction of heterozygous fish
Authors: Baronio Diego , Chen Yu-Chia , Panula Pertti
Published: December 2021

Monoamine oxidase (MAO) deficiency and imbalanced levels of brain monoamines have been associated with developmental delay, neuropsychiatric disorders and aggressive behavior. Animal models are valuable tools to gain mechanistic insight into outcomes associated with MAO deficiency. Here, we report a novel genetic model to study the effects of mao loss of function in zebrafish. Quantitative PCR, in situ hybridization and immunocytochemistry were used to study neurotransmitter systems and expression of relevant genes for brain development in zebrafish mao mutants. Larval and adult fish behavior was evaluated through different tests. Stronger serotonin immunoreactivity was detected in mao+/− and mao−/− larvae compared with their mao+/+ siblings. mao−/− larvae were hypoactive, and presented decreased reactions to visual and acoustic stimuli. They also had impaired histaminergic and dopaminergic systems, abnormal expression of developmental markers and died within 20 days post-fertilization. mao+/− fish were viable, grew until adulthood, and demonstrated anxiety-like behavior and impaired social interactions compared with adult mao+/+ siblings. Our results indicate that mao−/− and mao+/− mutants could be promising tools to study the roles of MAO in brain development and behavior.

This article has an associated First Person interview with the first author of the paper.
Different patterns of chronic hypoxia lead to hierarchical adaptive mechanisms in goldfish metabolism
Authors: Thoral Elisa , Farhat Elie , Roussel Damien , Cheng Hang , Guillard Ludovic , Pamenter Matthew E. , Weber Jean-Michel , Teulier Loïc
Published: December 2021

Some hypoxia-tolerant species, such as goldfish, experience intermittent and severe hypoxia in their natural habitat, causing them to develop multiple physiological adaptations. However, in fish, the metabolic impact of regular hypoxic exposure on swimming performance in normoxia is less well understood. Therefore, we experimentally tested whether chronic exposure to constant (30 days at 10% air saturation) or intermittent hypoxia (3 h in normoxia and 21 h in hypoxia, 5 days a week) would result in similar metabolic and swimming performance benefits after reoxygenation. Moreover, half of the normoxic and intermittent hypoxic fish were put on a 20-day normoxic training regime. After these treatments, metabolic rate (standard and maximum metabolic rates: SMR and MMR) and swimming performance [critical swimming speed (Ucrit) and cost of transport (COT)] were assessed. In addition, enzyme activities [citrate synthase (CS), cytochrome c oxidase (COX) and lactate dehydrogenase (LDH)] and mitochondrial respiration were examined in red muscle fibres. We found that acclimation to constant hypoxia resulted in (1) metabolic suppression (−45% SMR and −27% MMR), (2) increased anaerobic capacity (+117% LDH), (3) improved swimming performance (+80% Ucrit, −71% COT) and (4) no changes at the mitochondrial level. Conversely, the enhancement of swimming performance was reduced following acclimation to intermittent hypoxia (+45% Ucrit, −41% COT), with a 55% decrease in aerobic scope, despite a significant increase in oxidative metabolism (+201% COX, +49% CS). This study demonstrates that constant hypoxia leads to the greatest benefit in swimming performance and that mitochondrial metabolic adjustments only provide minor help in coping with hypoxia.
Mindfulness in Athletes
Authors: Anderson Scott A. , Haraldsdottir Kristin , Watson Drew
Published: December 2021

Interventions to promote athlete health and performance have traditionally been focused on the physical elements of injury and training. More recently, however, increasing attention has been placed on the mental aspects of athlete health, with emerging evidence suggesting that injury risk and athletic performance are significantly affected by athlete well-being. Mindfulness meditation has been shown to have significant benefits for a number of physical and mental health outcomes in various clinical populations, and recent research has explored how mindfulness may enhance athletic performance, improve athlete mental health, reduce injury risk, and perhaps even facilitate recovery from injury. As awareness of mindfulness as a noninvasive, low-risk, and accessible intervention increases in the Western society, use among athletes has increased as well. Health care providers should be aware of this evidence in order to guide athletes regarding the use of mindfulness as an intervention to potentially improve athlete health and performance.
Mass Atrocities and Their Prevention
Authors: Anderton Charles H. , Brauer Jurgen
Published: December 2021

Counting conservatively, data show about 100 million mass atrocity-related deaths since 1900. A distinct empirical phenomenon, mass atrocities are events of enormous scale, severity, and brutality, occur in wartime and in peacetime, are geographically widespread, occur with surprising frequency, under various systems of governance, and can be long-lasting in their effects on economic and human development, wellbeing, and wealth, more so when nonfatal physical injuries and mental trauma also are considered. As such, mass atrocities are a major economic concern. Given the multidisciplinary nature of the subject matter, the pertinent conceptual, theoretical, and empirical literatures are voluminous and widely dispersed, and have not been synthesized before from an economics point of view. We address two gaps: a “mass atrocities gap” in the economics literature and an “economics gap” in mass atrocities scholarship. Our goals are, first, to survey and synthesize for economists a broad sweep of literatures on which to base further work in this field and, second, for both economists and noneconomists to learn how economic inquiry contributes to understanding the causes and conduct of mass atrocities and, possibly, to their mitigation and prevention. In drawing on standard, behavioral, identity, social network, and complex systems economics, we find that the big puzzles of the “how” and “why” of mass atrocities, and mass participation therein, are being well addressed. While new research on such topics will be valuable, work should also progress to develop improved prevention approaches. (JEL D72, D74, K38, N40, Z13)
Forecasting in the Presence of Instabilities: How We Know Whether Models Predict Well and How to Improve Them
Authors: Rossi Barbara
Published: December 2021

This article provides guidance on how to evaluate and improve the forecasting ability of models in the presence of instabilities, which are widespread in economic time series. Empirically relevant examples include predicting the financial crisis of 2007–08, as well as, more broadly, fluctuations in asset prices, exchange rates, output growth, and inflation. In the context of unstable environments, I discuss how to assess models’ forecasting ability; how to robustify models’ estimation; and how to correctly report measures of forecast uncertainty. Importantly, and perhaps surprisingly, breaks in models’ parameters are neither necessary nor sufficient to generate time variation in models’ forecasting performance: thus, one should not test for breaks in models’ parameters, but rather evaluate their forecasting ability in a robust way. In addition, local measures of models’ forecasting performance are more appropriate than traditional, average measures. (JEL C51, C53, E31, E32, E37, F37)
RNA multimerization as an organizing force for liquid–liquid phase separation
Authors: Bevilacqua Philip C. , Williams Allison M. , Chou Hong-Li , Assmann Sarah M.
Published: December 2021

RNA interactions are exceptionally strong and highly redundant. As such, nearly any two RNAs have the potential to interact with one another over relatively short stretches, especially at high RNA concentrations. This is especially true for pairs of RNAs that do not form strong self-structure. Such phenomena can drive liquid–liquid phase separation, either solely from RNA–RNA interactions in the presence of divalent or organic cations, or in concert with proteins. RNA interactions can drive multimerization of RNA strands via both base-pairing and tertiary interactions. In this article, we explore the tendency of RNA to form stable monomers, dimers, and higher order structures as a function of RNA length and sequence through a focus on the intrinsic thermodynamic, kinetic, and structural properties of RNA. The principles we discuss are independent of any specific type of biomolecular condensate, and thus widely applicable. We also speculate how external conditions experienced by living organisms can influence the formation of nonmembranous compartments, again focusing on the physical and structural properties of RNA. Plants, in particular, are subject to diverse abiotic stresses including extreme temperatures, drought, and salinity. These stresses and the cellular responses to them, including changes in the concentrations of small molecules such as polyamines, salts, and compatible solutes, have the potential to regulate condensate formation by melting or strengthening base-pairing. Reversible condensate formation, perhaps including regulation by circadian rhythms, could impact biological processes in plants, and other organisms.
Pathological phase transitions in ALS-FTD impair dynamic RNA–protein granules
Authors: Nedelsky Natalia B. , Taylor J. Paul
Published: December 2021

The genetics of human disease serves as a robust and unbiased source of insight into human biology, both revealing fundamental cellular processes and exposing the vulnerabilities associated with their dysfunction. Over the last decade, the genetics of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have epitomized this concept, as studies of ALS-FTD-causing mutations have yielded fundamental discoveries regarding the role of biomolecular condensation in organizing cellular contents while implicating disturbances in condensate dynamics as central drivers of neurodegeneration. Here we review this genetic evidence, highlight its intersection with patient pathology, and discuss how studies in model systems have revealed a role for aberrant condensation in neuronal dysfunction and death. We detail how multiple, distinct types of disease-causing mutations promote pathological phase transitions that disturb the dynamics and function of ribonucleoprotein (RNP) granules. Dysfunction of RNP granules causes pleiotropic defects in RNA metabolism and can drive the evolution of these structures to end-stage pathological inclusions characteristic of ALS-FTD. We propose that aberrant phase transitions of these complex condensates in cells provide a parsimonious explanation for the widespread cellular abnormalities observed in ALS as well as certain histopathological features that characterize late-stage disease.