bluuebunny/crossref_metadata_2025 huggingface dataset:
Role of Artificial Intelligence and Machine Learning in Bioinformatics: Drug Discovery and Drug Repurposing
Authors: Quazi Sameer
Published: May 2021

Artificial intelligence AI or machine learning has proven to be a potential activity in the health and biomedical sciences. Previous research it has found that AI can learn new data and transform it into the useful knowledge. In the field of pharmacology, the aim is to design more efficient and novel vaccines using this method which are also cost effective. The underlying fact is to predict the molecular mechanism and structure for increased likelihood of developing new drugs. Clinical, electronic and high resolution imaging datasets can be used as inputs to aid the drug development niche. Moreover, the use of comprehensive target activity has been performed for repurposing a drug molecule by extending target profiles of drugs which also include off targets with therapeutic potential providing a new indication.
Gambling in Spain: the need for a geographical perspective
Authors: Villar Lama Arsenio , Fiedor David , García Martín Miguel , Šerý Miloslav
Published: May 2021

The social practice of games of chance and gambling can be read in an interesting variety of ways in the area of the Social Sciences. One is the geographical perspective, which highlights the spatial repercussions of this form of recreation. However, in Spain, very little scientific literature exists on the topic, which justifies the appropriateness of this contribution with the purpose of establishing an initiatory conceptual and methodological framework. A variety of statistical and legal sources are treated to establish three levels of analysis: first, the position of games of chance and gambling in Spain in the international context; second, location patterns in Spain at the regional level, and third, the spatial aspects of the different legal norms at the autonomous community level. To conclude, games of chance and gambling are a deep-rooted form of recreation in Spain and offer interesting lines of geographical research, although it would be desirable for the quality, variety, and accessibility of data to be improved.
Collaborative care for depression and suicide prevention: a feasible intervention within the Mexican health system
Authors: Durand-Arias Sol , Cordoba Gloria , Borges Guilherme , Madrigal-de León Eduardo Á.
Published: May 2021

Mexico faces an enormous challenge in attending mental health disorders with depression rising as one of the five main contributors to disability adjusted life years (DALYs) and increasing suicide rates. These challenges are coupled with a dearth of resources and an inefficient allocation of the meager funds. While no magical bullet is available to ameliorate this situation in the short term, here we discuss current concepts and experiences that could be used in Mexico to deliver better primary mental health care. We focus on depression and suicidal behavior and argue that collaborative care is a feasible and replicable model, emphasizing the importance of training non-specialized primary care personnel to become case managers and provide primary mental health care. Mexi­co is currently undergoing a process of changes, including the emergence of universal health care. The time seems right to make mental health care more transversal, widely available and scientifically proven.
Covid-19 en receptores de trasplante de médula ósea
Authors: Cervantes-Pérez Lorena A , Cervantes-Guevara Gabino , Cervantes-Pérez Enrique
Published: May 2021

No disponible
Revisión rápida: evidencia de transmisión por Covid-19 e infecciones respiratorias agudas similares en espacios públicos abiertos
Authors: Medina Catalina , Chavira Julissa , Aburto Tania , Nieto Claudia , Contreras-Manzano Alejandra , Segura Luis , Jáuregui Alejandra , Barquera Simón
Published: May 2021

Objetivo. Describir la evidencia disponible sobre la trans­misión por Covid-19 e infecciones respiratorias agudas simi­lares al Covid-19 en espacios públicos abiertos. Material y métodos. La búsqueda incluyó 4 926 artículos en inglés de los años 2000 a 2020. Seis investigadores revisaron el título y el resumen de los artículos de Embase y PubMed; dos inves­tigadores revisaron los de medRxiv. Todos los investigadores revisaron textos completos y otros resolvieron las discre­pancias. Resultados. De los 21 artículos seleccionados, se observó que la presencia de virus en superficies públicas, aguas residuales y áreas exteriores no fue indicativa de trans­misión. No obstante, se observó que el uso de cubrebocas, el lavado de manos, el distanciamiento social, no asistir a eventos masivos y la movilidad individual a espacios públicos podría ayudar a reducir el riesgo de transmisión. Conclusión. Esta información podría coadyuvar a generar recomendaciones en salud pública, sin embargo, es recomendable actualizar esta revisión conforme avance la evidencia científica.
Temperature should not be measured on forearm with infrared thermometers for Covid-19 screening
Authors: Bandala-Jacques Antonio , Romero-Mendoza Abraham , Cantú-de-León David
Published: May 2021

Not available
Evidencia molecular de la infección por Trypanosoma cruzi TcI en Meccus pallidipennis capturados en el municipio de Tepecuacuilco, Guerrero
Authors: Aparicio-Burgos José E. , Romero-Cortés Teresa , López-Ramírez Varinia , Reyes-Ríos Roxana , Campos-Hernández Eleuterio
Published: May 2021

No disponible
Iron deficiency is not the main contributor to anemia in older Mexican adults: results from the National Health and Nutrition Survey 2018-19
Authors: De la Cruz-Góngora Vanessa , Rivera-Pasquel Marta , Shamah-Levy Teresa , Villalpando-Hernández Salvador
Published: May 2021

Objective. To describe the current status of anemia and iron deficiency (ID), as well as associated sociodemographic characteristics, in older adults (OA). Materials and meth­ods. Serum and capillary blood samples from a sample of OA participants (n=2 902) from the Ensanut 2018-19 were analyzed. ID was defined as s-ferritin<15 μg/L, and anemia was defined according to World Health Organization stan­dards. Logistic regression models were used to associate the characteristics of OA with anemia and ID. Results. Of the OA analyzed, anemia was present in 28.4%, ID in 5% and iron deficiency anemia in 2.07%. Diabetes (OR=2.14), renal insuf­ficiency (OR=10.4), higher age, and urban dwelling (OR=1.35) were conditions associated with higher odds for anemia (p<0.05). Belonging to the 70-79 year age group was the only condition associated with higher odds for ID (OR=1.86, p<0.05). Conclusions. Anemia affects a high proportion of OA, and ID is not the main contributor to anemia. Chronic comorbidities help explain the anemia problem in OA.
Expresión de infección por SARS-CoV-2 en niños: infección aguda sintomática y síndrome inflamatorio multisistémico
Authors: Lona-Reyes Juan Carlos , Paredes-Casillas Patricia , Sepúlveda-Marrón Jocelín , Cruz-Revilla Rubén , Barrón-Balderas Alejandro , Calderón-Escamilla Juan Rigoberto
Published: May 2021

No disponible
Coexistencia de tuberculosis y Covid-19
Authors: Rendón Adrián , Soto-Moncivais Berenice , Olivares-Martínez Pamela , Migliori Giovanni B
Published: May 2021

No disponible
Covid-19, impacto psicosocial en estudiantes de medicina
Authors: Garcia-Espinosa Patricio , Ortiz-Jiménez Xóchitl , Botello-Hernández Edgar , Hernández-Díaz Ana , Góngora-Rivera Fernando , Investigators GECEN
Published: May 2021

No disponible
La desnutrición en México: una agenda inconclusa
Authors: M. Neufeld Lynnette
Published: May 2021

No disponible
Associated risks of smoking and possible benefits of cessation in Covid-19: a rapid narrative review
Authors: Hernández-Pérez Andrea , García-Gómez Leonor , Rodríguez-Llamazares Sebastián , Thirión-Romero Ireri , Osio-Echánove Jennifer , Pérez-Padilla Rogelio
Published: May 2021

Objective. To describe the possible risks associated to smoking in the spread and complications of Covid-19, em­phasizing in the benefits of quitting smoking. Materials and methods. The narrative review methodology and the established process for Cochrane rapid reviews were used. Results. The scientific evidence related to smoking and Covid-19 remains limited. However, there is an already documented trend in cross-sectional, clinical studies and meta-analyses on the increased risk of adverse outcomes with Covid-19 associated with tobacco use. Conclusions. It is necessary to issue a warning that persons who smoke would have greater risks in the Covid-19 pandemic, which add to the many already known risks of tobacco use. Thus, quitting smoking becomes a relevant preventive measure to better confront SARS-CoV-2.
Some convergence theorems of fuzzy concave integral on fuzzy σ-algebra
Authors: Rong Sun
Published: May 2021

In this paper, we consider the extension of concave integral from classic σ -algebra to fuzzy σ -algebra of fuzzy sets. We introduce the concept of the fuzzy concave integral on a fuzzy set. Then we give some properties of this integral. Finally, various kinds of convergence theorems of a sequence of fuzzy concave integrals are proved.
Allosteric activation of preformed EGF receptor dimers by binding of a single ligand
Authors: Purba Endang , Saita Ei-ichiro , Akhouri Reetesh , Öfverstedt Lars-Göran , Wilken Gunnar , Skoglund Ulf , Maruyama Ichiro
Published: May 2021

Aberrant activation of the epidermal growth factor receptor (EGFR) by mutations has been implicated in a variety of human cancers. Elucidation of the structure of the full-length receptor is essential to understand the molecular mechanisms underlying its activation. Unlike previously anticipated, here, we report that purified full-length EGFR adopts a homodimeric form in vitro before and after activation. Cryo-electron tomography analysis of the purified receptor also showed that the extracellular domains of the receptor dimer, which are conformationally flexible before activation, are stabilised by ligand binding. Consistently, optical single-molecule observation also demonstrated that binding of only one ligand activates the receptor dimer on the cell surface. Based on these results, we propose an allosteric model for the activation of EGFR dimers by ligand binding. Our results demonstrate how oncogenic mutations spontaneously activate the receptor and shed light on the development of novel cancer therapies.
Mechanical Growth Factor Promotes FOXP3 Expression in Regulatory T Cells and Enhances Its Function in Treating Ankylosing Spondylitis
Authors: Qin Hongyu , Yuan Shuangshuang , Zeng Hao , Li Hao , Yang Jinsong
Published: May 2021

Objective: We aimed to verify whether mechanical growth factor (MGF) may be an effective target for treating ankylosing spondylitis. Methods: FOXP3 expression was measured in Treg cells from healthy male subjects administered MGF. A rat model of ankylosing spondylitis was established, and the level of ankylosing spondylitis-related factors (tumor necrosis factor [TNF]-α, interleukin [IL]-2, and IL-10) was measured. Results: We found that the proliferation and total number of Treg cells, as well as FOXP3 expression, significantly increased in the MGF-treated groups compared with those in the control. The level of inflammation, bone destruction, and new bone formation significantly decreased in rats treated with MGF compared with those in the control group. TNF-α expression significantly decreased, whereas the IL-2 and IL-10 levels significantly increased in the MGF group compared with those in the control. Conclusions: MGF may delay disease progression in ankylosing rats by inducing FOXP3 expression, promoting FOXP3+ Treg cell proliferation and differentiation, reducing TNF-α expression, and increasing IL-10 and IL-2 expression.
Service Level Indicators for Water Supply Systems: Appraisal and Implications for Sustainable Management
Authors: Oluwasanya Grace , ODJEGBA ENOVWO ERERE , Shittu Olufunke Bolatito , Idowu Olufemi Abiola , Brion Gail
Published: May 2021

Access to adequate water supply is vital. The wellbeing of the human population and their environs is directly linked to the level of water service delivery. The service level of three main categories of water supply systems was assessed across 6 locations in Ogun State, Southwest Nigeria. The water supply systems categories included: self-supply systems (hand-dug wells and boreholes), communal water supply systems (boreholes only), and public water systems. Five service level indicators (access, quality, management, cost, and reliability) were assessed using structured questionnaires. Questionnaire administration targeted water supply system users and owners in two categories: owners/resident users and non-resident users. Results show that owners/resident users restricted the access of non-resident users to water assets, which expectedly dipped access to adequate service level for non-resident users. When post-abstraction treatment was practiced by water users, the use of sodium hypochlorite solutions (Water Guard®) was the most prominent option of treatment. Management and costs (cleaning, maintenance and repair) of water supply systems are borne by owners/resident users; costs borne by non-resident users is only from purchase of water. Reliability of water supply systems is hampered by geology and climatic seasonal variations as some water supply systems dried up during the off-rain season. Coverage area and number of public water supply systems needs to be improved to reduce reliance of water users on questionable alternative sources that can expose water users to water-related diseases and prevent restricted access to water supply sources.
Hate Speech Detection using Modified Principal Component Analysis and Enhanced Convolution Neural Network on Twitter Dataset
Authors: Alowaidi Majed
Published: May 2021

Online social media are increasingly catching people’s eye among users of the Internet. Services provided by social networking vendors like Twitter and Facebook are very attractive, with widespread proliferation among internet users. As a downside of their predominance in the domain of social networking, Twitter and Facebook are frequently pestered with the problem of handling offensive, threat, fake, hate words. One of the major problems, apparent in online social media, is the toxic online content. In the existing system, the methods are not dealt with large dataset. Also the feature extraction method is not efficient to extract important features in the given dataset. To overcome the above mentioned issues, in this work, Modified Principal Component Analysis (MPCA) and Enhanced Convolution Neural Network (ECNN) is proposed. Natural Language Processing (NLP) is implemented to build an automatic system through the inclusion of syntactic and semantic analysis. This work contains main phases are such as pre-processing, feature extraction and classification process. The pre-processing is done by using normalization method which is used to remove the white spaces, replace the consecutive exclamation and question marks, and eliminate stop words. These preprocessed features are taken into feature extraction process. MPCA algorithm is applied to perform feature extraction process. It uses set of correlated features and extracts more informative features for the given dataset. Then the classification algorithm is proposed to detect the hate speech or abusive languages. ECNN is proposed to classify hate and non-hate from the online content more accurately. It takes many inputs and generates output with minimum amount of time with higher accuracy for larger dataset. Thus, the result concludes that the proposed MPCA+ECNN algorithm provides higher accuracy, precision, recall and F-measure values rather than the existing methods.
Decompression of the Suprascapular Nerve at the Superior Scapular Notch Under Combined Arthroscopic and Ultrasound (US) Guidance: US-Arthroscopy
Authors: Prénaud Clément , LOUBEYRE Jeanne , SOUBEYRAND Marc
Published: May 2021

Background: Decompression of the suprascapular nerve (SSNe) at the superior scapular notch (SSNo) is usually performed with an arthroscopic procedure. This technique is well described but locating the nerve is complex because it is deeply buried and surrounded by soft tissue. We propose to combine ultrasound and arthroscopy (US-arthroscopy) to facilitate nerve localization, exposure and release. The main objective of this study was to assess the feasibility of this technique. Methods: This is an experimental, cadaveric study, carried out on shoulders. The first step of our technique is to locate the SSNo using an ultrasound scanner. Then an arthroscope is introduced under ultrasound control to the SSNo. A second portal is then created to dissect the pedicle and perform the ligament release. Results: Ultrasound identification of the SSNo, endoscopic dissection and decompression of the nerve were achieved in 100% of cases. Ultrasound identification of the SSNo took an average of min (+/-4) while dissection and endoscopic release time took an average of min (+/-5). Conclusion: Ultrasound is an extremely powerful tool for non-invasive localization of nerves through soft tissues, but it is limited by the fact that tissue visualization is limited to the ultrasound slice plane, which is two-82 dimensional. On the other hand, arthroscopy (extra-articular) allows three-dimensional control of the surgical steps performed, but the locating of the nerve involves significant tissue detachment and a risk of damaging the nerve with the dissection. The combination of the two (US-arthroscopy) offers the possibility of combining the advantages of both techniques.
Tuning weight values by resolving imbalances at nodes in an augmented artificial neural network
Authors: Shinkai Gou
Published: May 2021

Tuning the weight values in an artificial neural network for a computational function is essential for artificial intelligence. This letter proposes tuning based on a mathematical model, which conceptually extends the artificial neural network by allowing an imbalance between the sum of the incoming values to a node and the outgoing values from the node in the network. In a different way from the gradient-descent-based tuning that uses multiple updates to minimise the difference between the required output values and the computed output values of an artificial neural network, the proposed tuning resolves the imbalance at each node in the network. The proposed tuning exhibits similar performance to the existing stochastic-gradient-descent-based tuning. In contrast, the proposed tuning does not need to explore the optimal parameters to obtain the optimal weight values. These benefits of the proposed tuning method could accelerate the advancement of artificial intelligence.
The Pattern of COVID-19 Transmission In China Based On The Data From 294 Prefecture-Level Cities
Authors: Duan Zaipeng , Ai Renhua
Published: May 2021

This paper concerns an analysis about the impact of a total of 18 factors on the spread of COVID-19 in five aspects: population and economy, education, medical care, insurance, and migration. The research is based on the cumulative number of confirmed cases in 294 prefecture-level cities in China, and geographic weighted regression models. The main conclusions are as follows: ①Population and economic factors are positively correlated with the overall impact of the epidemic, but the case is just opposite in the economically developed southeast region, possibly due to the fact that the outbreak of the epidemic coincided with the Spring Festival, with a large number of people outflowing from the southeast, and economic activities decreasing, resulting in a small number of confirmed cases; ②Educational factors have some impact on the spread of the epidemic, but the characteristics of the impact are uncertain; ③Medical and insurance factors have a positive relation with the overall epidemic, different from the common sense and the vast majority of studies. This may be explained by the fact that at the initial stage of the outbreak, a large number of patients were admitted to the regular wards without adequate protection, resulting in an increase in the number of infectious patients in hospitals; ④ Migration factors have a negative relation with the overall suppression of the epidemic, indicating that during the outbreak period, migration should be strictly controlled.
Parameter Dependences Arising from Calibration of a Riverine Diatom Model - Representation in Terms of Posterior Conditional Distributions
Authors: Callies Ulrich , Albert Christopher G. , von Toussaint Udo
Published: May 2021

We address the analysis and proper representation of posterior dependence among parameters obtained from model calibration. A simple water quality model for the Elbe River (Germany) is referred to as an example. The joint posterior distribution of six model parameters is estimated by Markov Chain Monte Carlo sampling based on a quadratic likelihood function. The estimated distribution shows to which extent model parameters are controlled by observations, highlighting issues that cannot be settled unless more information becomes available. In our example, some vagueness occurs due to problems in distinguishing between the effects of either growth limitation by lack of silica or a temperature dependent algal loss rate. Knowing such indefiniteness of the model structure is crucial when the model is to be used in support of management options. Bayesian network technology can be employed to convey this information in a transparent way.
Mechanism of Water-conducting Fractured Zone in Jiaojia Gold Mine with Deep Mining Based on Constitutive Model
Authors: Pang ChuMing , Wang Ying , Shi Longqing , Shi Yongkui
Published: May 2021

The deep resources of the gold mines have great potential to be the leading area of the national gold industry. However, with the increase of mining depth in Jiaojia gold mine of Shandong province, China, the overburden stress is increasing, the spatial and temporal distribution of mining stress field is more complex to cause spatial structure of overlying strata seriously damaged, which often leads to mine water disaster. Therefore, the research on the law of surrounding rock stress and water-conducting fractured zone development has become an important topic for safe mining of gold mines. In this paper, based on the analysis of borehole data and profile map, three-dimensional geological model was established to predict the height of the water-conducting fracture zone by using Sufer17, Rhino 6, Griddle plug-in and FLAC3D software, and the mining process with the method of downward horizontal slice stoping-filling was simulated by using constitutive model. Results show that the maximum height of the water-conducting fractured zone is about 21.2 m during the whole mining at -700 level, the shape is from near horizontal to micro arch, the failure range of the plastic area near the fault is larger than that far away from the fault. The stress distribution on both sides of the fault is not continuous, which is larger in the hanging wall than that in the footwall. The stress concentration zone is formed in the front and back of the stope during mining process and increases with mining depth. This method can restore the original state of underground stress field to the greatest extent, and make up for the lack of empirical formula theory and the limitation of similar material method for deep mining, which is relatively more accurate and reliable.
A fast and efficient model for real-time anti-tumor drug efficacy test in the clinical setting based on patient-derived tumor xenograft
Authors: Zhu Yanping , Zheng Hui , Wang Qian , Wang Zhiqiang , Song Hang , Yuan Peng , Fu Deliang , Wang Yizhou
Published: May 2021

Drug response rates in cancer therapies are frequently unsatisfactory (first-line 30-40%, subsequent-line ~10% or less). The mouse model, patient-derived tumor xenograft (PDTX), can help promote drug effective rate to over 80% by precisely electing efficacious agents. However, the low engraftment rates, extended testing cycle, and high cost limit its utilization in the clinical setting. A novel method, FastPDTX, was developed, in which a substitutive engrafting procedure was applied, and the labor-intensive and time-consuming propagation of tumorgrafts was circumvented by pathological analysis. A comprehensive evaluation involving tumor biology and clinical performance was performed for this new model. The clinical evaluation engaged 431 PDTX cases, 1050 FastPDTX cases, 531 therapeutic entities, 6535 regimens, and a broad spectrum of solid tumors. Typical cases were also studied, covering various refractory malignant tumors. FastPDTX kept biological architectures and genetic characteristics of the primary tumor and displayed an equivalent positive predictive value as PDTX for the drug efficacy test. The testing cycle was reduced from 3-6 months to 3 weeks, and the cost was decreased by 85%. More importantly, the obstacle of low engraftment rate was circumvented, resulting in the percentage of appliable tests nearly 5-fold higher (94.8% vs. 16.7%) than PDTX. FastPDTX is particularly suitable in circumstances where standard care is not available and the therapeutic window is short, and for cases where tumors have indolent growth in mice. FastPDTX preserved the advantages of classical PDTX, overcame its major limitations, and showed great potential for real-time clinic drug selection in cancer therapy.
Targeted Shielding and Coronavirus Symptoms Among Adults in the UK
Authors: Kumari Meena , Chandola Tarani , Booker Cara L , Benzeval Michaela J
Published: May 2021

Background: In the UK, in March 2020, those at high risk for adverse outcomes following coronavirus disease (COVID-19), identified as ‘clinically extremely vulnerable’, were sent a notification to shield themselves for 12 weeks. This study examines the effect of this targeted shielding on reporting of coronavirus symptoms and testing positive, common mental disorder and loneliness. Methods: Data from 13,750 adult participants (aged 16+), who participated each month from April to July 2020 in the COVID-19 surveys of Understanding Society (UKHLS), were used to examine the association of receipt of a shielding communication with coronavirus symptoms reporting or a positive test, common mental disorder, loneliness. Findings: The prevalence of coronavirus symptom reporting or testing positive was around 4.2% (95% CI: 1.4%-7.2%) lower among individuals living in households that received a shielding letter compared to those in households which did not. This difference was 10.7% (95% CI: 3.1%-18.2%) among individuals in the highest COVID-19 risk group. Poor mental health was associated with the receipt of a shielding letter, but was accounted for by COVID-19 risk level. Similar patterns were apparent for loneliness. Interpretation: In the context of the lockdown when the general population was staying at home, the shielding policy further reduced the risk of coronavirus symptoms and infections.
The diagnostic accuracy of multi-organ point-of-care ultrasonography for life-threatening conditions: The case of cancer patients who visit the emergency department: retrospective observational study
Authors: Choi Yun Ang , Lee Min Sung , Kim Tae Kwon , Jung Jae Yun , Kim Ki Hong , Park Joong Wan , Kim Jayoun , Lee Yong Hee , Lee Stephen Gyung Won
Published: May 2021

Background The number of cancer patients visiting the emergency department (ED) is increasing globally, and this has highlighted the importance of diagnosing and coping with related life-threatening complications early. There may be efficacy in employing multi-organ point-of-care ultrasonography (M-PoCUS) for this purpose; however, there has been no study on the usefulness of this diagnostic tool for cancer patients only. The aim of this study was to evaluate the diagnostic accuracy of M-PoCUS for a life-threatening condition in cancer patients who visited the ED.Methods We conducted a retrospective observational study in one tertiary university hospital ED in Seoul, Republic of Korea. We selected three emergency medicine specialists to perform a protocolized M-PoCUS evaluation of cancer patients according to the requests of emergency physicians since the SARS-CoV-2 pandemic began. We enrolled 94 cancer patients in the study. The M-PoCUS diagnosis was then compared with an audit diagnosis. The primary outcomes measured were the sensitivity, specificity, positive predictive value, and negative predictive value of M-PoCUS in the above-described diagnosis.Results The M-PoCUS showed a sensitivity of 83% (95% CI, 61-95), specificity of 96% (95% CI, 88-99), positive predictive value of 86% (95% CI, 65-97), and negative predictive value of 94% (95% CI, 85-97). M-PoCUS produced 4 false negative (4.3%) pulmonary thromboembolism diagnoses and 3 false positive (3.2%) pleural effusion diagnoses. Conclusions M-PoCUS was useful in ruling out a life-threatening condition among the cancer patients. However, pulmonary thromboembolism was hard to distinguish using M-PoCUS due to pre-existing diseases scattered in cancer patients’ thorax.
Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
Authors: Zhang Yuanyuan , Liu Xiaoliang , Gao Haiming , He Rong , Chu Guoming , Zhao Yanyan
Published: May 2021

Background: Deletion and duplication of the -3.7 Mb region in 17p11.2 result in two reciprocal syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study is to identify the prevalence, genetic characteristics and clinical phenotype of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects.Methods: 7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification (MLPA) P245 assay. 7319 fetuses with potential congenital defects were detected using next generation sequencing (NGS) technique.Results: 417 of 7077 children patients were identified to carry chromosome imbalance. Among them, 28 (28/7077, 0.4 %) cases had imbalance at chromosome 17p11.2, of which 12 cases (42.9 %) had heterozygous deletions and 16 (57.1 %) had heterogeneous duplications. The phenotypes of these 28 children were variable, including neurobehavioral disorders, craniofacial/skeletal anomalies, immunologic defects, ocular problems, and organ malformations. 263 of 7319 fetuses were recognized to have genomic copy number variations (CNV). Only 2 of them were found to harbor 17p11.2 imbalance. The fetus with deletion presented with ventricular septal defect and the fetus with reciprocal duplication had cerebral ventricle dilation.Conclusion: Our study highlights the phenotypic variability associated with 17p11.2 variations in China. The results further expand the phenotypic spectrum of SMS/PTLS and increase awareness of these disruptive mutations among clinicians.
Nrf2 Play an Protective Role in Oxldl Induced Fibrosis in Renal Tubular Cells
Authors: long xiangju , Liu Zhe , Sun Yanan , Zhang Hong
Published: May 2021

CD36 is a receptor of OxLDL in kidney tubular epithelial cells(NRK-52E cells),nuclear factor erythroid 2-related factor 2 (Nrf2) is a crucial factor initiate Nrf2-signaling pathway regulating oxidative stress,kelch-like ECH-associated protein 1(Keap1) is called Nrf2 inhibitor.We treated NRK-52E cells by different concentration and time of OxLDL, and Nrf2 inhibitor ΚeapI ,and then observed CD36 ,cytoplasmic and nuleus of Nrf2 ,E-cadherinin in NRK-52E cells by western blotting and RT-PCR methods etc.,we found that CD36 protein in OxLDL stimulated NRK-52E cells increased after enough concentration and time;Although total Nrf2 protein level did not chang significantly at 5h,10h,but decreased at 24h,48h;Nuleus Nrf2 protein level increased relatively.Meanwhile, cytoplasmic Nrf2 protein level did not change significantly; CD36 mRNA and protein expression decreased in the NRK-52E renal tubular cells treated with Nrf2 inhibitor keap1; After OxLDL stimulation and then keap1 overexpression, CD36 mRNA and protein expression also decreased; E-cadherin expression decreased in NRK-52E after KeapI over-expression treatment .These results may indicateed that CD36 could accept OxLDL and then upregulated in NRK-52E cells ; Nrf2 could be activated by OxLDL, But Nrf2 could resist oxidative stress induced by OxLDL only if it transfer to the nucleus from cytoplasm.Nrf2 may play an protective role through upregulating CD36 .
The Spectrum of Common Mutations in CFTR, AR Gene, and the Y Chromosome Microdeletions and Karyotyping Abnormalities in Phenotypic Male with Very Severe Oligozoospermia
Authors: safinejad kyumars , Jafari Leyla , Nasiri Mahboobeh , Heidari Mansour , Houshmand Massoud
Published: May 2021

Male infertility due to very severe oligozoospermia has been associated with a number of genetic risk factors.This association in patients with sperm concentration lower than 1× 106 ml are not yet fully studied.The present study aims to investigate the distribution of the mutations in the CFTR gene, the CAG repeat expansion of the AR gene as well as Y chromosome microdeletions and karyotyping abnormalities in very severe oligozoospermia patients from the Iranian population. In the present case-control study 200 severe oligozoospermia and 200 fertile males were enrolled. All patients karyotyped for diagnosis of the chromosomal abnormalities using routine. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG repeat expansion in the AR gene was evaluated for the number of repeats in each patient using sequencing. Overall, 4% of cases have a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation, G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG repeat in the AR gene in patients and controls were statistically significant (P = 0.04). Our study shows that ICSI in couples with very severe oligozoospermia can lead to an increase in children who are at risk of unbalanced chromosomal complement, male infertility due to transmission of Y-chromosomal microdeletion , AR- CAG repeat and cystic fibrosis if both partners carry the CFTR gene mutation. Genetic testing and counseling before considering ICSI is suggested for these couples.
ILC2s Are Responsible for RSV-induced Pulmonary Eosinophilic Infiltration by Response to IL-4/IL-13 via STAT6 Signaling
Authors: Liu Jing , Li Hongmin , Dai Fengcui , Ding Yan , Wang Chuanwen , Zhang Ting , Liu Yan , Xia Qingjiao , Song Huijuan , Lu Faqiang , Zong Chengguo , Jiang Bin , Han Xue , Sang Lixuan
Published: May 2021

The authors have requested that this preprint be removed from Research Square.
The determinants of staff retention after Emergency Obstetrics and Newborn Care training in Kenya: A cross- sectional study
Authors: Shikuku Duncan N. , Nyaoke Irene , Eyinda Martin , Gichuru Sylvia , Maina Onesmus , Nyaga Lucy , Iman Fatuma , Tallam Edna , Wako Ibrahim , Bashir Issak , Allott Helen , Ameh Charles
Published: May 2021

Introduction Kenya’s maternal mortality ratio is relatively high at 342/100,000 live births. Confidential enquiry into maternal deaths showed that 90% of the maternal deaths received substandard care with health workforce related factors identified in 75% of 2015/2016 maternal deaths. Competent Skilled Health Personnel (SHP) providing emergency obstetric and newborn care (EmOC) in an enabling environment reduces the risk of adverse maternal and newborn outcomes. The study objective was to identify factors that determine the retention of SHP 1 – 5 years after EmOC training in Kenya.Methods A cross-sectional review of EmOC SHP in five counties (Kilifi, Taita Taveta, Garissa, Vihiga and Uasin Gishu) was conducted between January-February 2020. Data was extracted from a training database. Verification of current health facilities where trained SHP were deployed and reasons for non-retention were collected. Descriptive data analysis, transfer rate by county and logistic regression for SHP retention determinants was performed. Results A total of 927 SHP were trained from 2014-2019. Most SHP trained were nurse/midwives (677, 73%) followed by clinical officers (151, 16%) and doctors (99, 11%). Half (500, 54%) of trained SHP were retained in the same facility. Average trained staff transfer rate was 43%, with Uasin Gishu lowest at 24% and Garissa highest at 50%. Considering a subset of trained staff from level 4/5 facilities with distinct hospital departments, only a third (36%) of them are still working in relevant maternity/newborn/gynaecology departments. There was a statistically significant difference in transfer rate by gender in Garissa, Vihiga and the combined 5 counties (p<0.05). Interval from training in years (1 year, AOR=4.2 (2.1-8.4); cadre (nurse/midwives, AOR=2.5 (1.4-4.5); and county (Uasin Gishu AOR=9.5 (4.6- 19.5), Kilifi AOR=4.0 (2.1-7.7) and Taita Taveta AOR=1.9 (1.1-3.5), p<0.05, were significant determinants of staff retention in the maternity departments.Conclusion Retention of EmOC trained SHP in the relevant maternity departments was low at 36 percent. SHP were more likely to be retained by 1-year after training compared to the subsequent years and this varied from county to county. County policies and guidelines on SHP deployment, transfers and retention should be strengthened to optimise the benefits of EmOC training.
Neural Underpinnings of Morality Judgment and Moral Aesthetic Judgment
Authors: Cheng Qiuping , Wen Xue , Liu Yanchi , Mo Lei
Published: May 2021

Morality judgment usually refers to the evaluation of moral behavior`s ability to affect others` interests and welfare, while moral aesthetic judgment often implies the appraisal of moral behavior's capability to provide aesthetic pleasure. Both are based on the behavioral understanding. To our knowledge, no study has directly compared the brain activity of these two types of judgments. The present study recorded and analyzed brain activity involved in the morality and moral aesthetic judgments to reveal whether these two types of judgments differ in their neural underpinnings. Results reveled that morality judgment activated the frontal, parietal and occipital cortex previously reported for motor representations of behavior. Evaluation of goodness and badness showed similar patterns of activation in these brain regions. In contrast, moral aesthetic judgment elicited specific activations in the frontal, parietal and temporal cortex proved to be involved in the behavioral intentions and emotions. Evaluation of beauty and ugliness showed similar patterns of activation in these brain regions. Our findings indicate that morality judgment and moral aesthetic judgment recruit different cortical networks that might decode others' behaviors at different levels. These results contribute to further understanding of the essence of the relationship between morality judgment and aesthetic judgment.
Epidemic Risk Perceptions in Italy and Sweden Driven by Authority Responses to COVID-19
Authors: Raffetti Elena , Mondino Elena , Baldassarre Giuliano Di
Published: May 2021

Understanding public risk perception is an essential step to develop effective measures reducing the spread of disease outbreaks. Here we compare epidemic risk perceptions during two different periods of the COVID-19 pandemic in Italy and Sweden. To this end, we analyzed the results of two nationwide surveys carried out in both countries in two periods characterized by different infection rates: August (N = 4,154) and November 2020 (N = 4,168). Seven domains of epidemic risk perception were considered: likelihood along with (individual and population) impact, preparedness, and knowledge. The role of the context and period was explored in stratified and formal interaction analyses. In both countries, we found an intensification in epidemic risk perception from August to November 2020. Being male, older and having a higher relative income were associated with a lower perception of the likelihood of epidemics, while excess mortality was marginally related to higher odds. Compared to Sweden, Italy had a higher increase in perception of likelihood and impact, and a concurrent decrease in preparedness and knowledge. The different authority response to the COVID-19 pandemic is associated with a different change over time in risk perception. Regional differences in terms of excess mortality only marginally explained differences in risk perception.
Identification of TNFRSF4 as a Diagnosis and Prognosis Biomarker Associated with Immune Microenvironment in Uterine Corpus Endometrial Carcinoma
Authors: Ma Heng , Feng Penghui , Yu Shuangni , Han Ruiqin , Guo Zaixin , Yu Qi , Chen Jie
Published: May 2021

BackgroundThe interaction between tumor microenvironment (TME) and tumors offers various targets in mounting anti-tumor immunotherapies. However, the diagnostic and prognostic biomarkers in uterine corpus endometrial carcinoma (UCEC) are still limited. Here, we aimed to analyze the TME features and identify novel prognostic biomarkers for UCEC. MethodsESTIMATE, CIBERSORT, protein-protein interaction (PPI) network, univariate Cox regression, and functional enrichment analysis were performed to identify immune- and survival-related hub genes as well as possible molecular mechanisms. The limma package and the deconvolution algorithm were adopted to estimate the tumor-infiltrating immune cells (TICs) abundance and their relationship with the target gene. Tissue microarrays (TMAs) of UCEC were evaluated to validate protein expression of the identified immune markers, including TNFRSF4, CD4, and CD8. The receiver operating characteristic (ROC) curve was used to determine the efficacy of TNFRSF4 in diagnosing UCEC. ResultsTwo genes, TNFRSF4 and S1PR4, were screened out from 386 intersection differential expression gene (DEGs) shared by ImmuneScore and StromalScore in UCEC. Highlighted by TNFRSF4, we found that it was not only positively correlated with the TICs (mainly CD4+ T cells, CD8+ T cells, and Tregs) but significantly related to diagnosis and prognosis in patients of UCEC, both verified by data from the TCGA database and clinical samples. ConclusionsCollectively, TNFRSF4 could serve as a high-profile biomarker to robustly predict immune microenvironment, clinical diagnosis and prognosis for UCEC.
Point-of-Care Testing in Out-of-Hospital Cardiac Arrest: A Retrospective Analysis of Relevance and Consequences
Authors: Gruebl Tobias , Ploeger Birgit , Wranze-Bielefeld Erich , Mueller Markus , Schmidbauer Willi , Kill Clemens , Betz Susanne
Published: May 2021

BackgroundMetabolic and electrolyte imbalances are some of the reversible causes of cardiac arrest and can be diagnosed even in the pre-hospital setting with a mobile analyser for point-of-care testing (POCT).MethodsWe conducted a retrospective observational study, which included analysing all pre-hospital resuscitations in the study region between October 2015 and December 2016. A mobile POCT analyser (Alere epoc®) was available at the scene of each resuscitation. We analysed the frequency of use of POCT, the incidence of pathological findings, the specific interventions based on POCT as well as every patient’s eventual outcome.ResultsN=263 pre-hospital resuscitations were included and in n=98 of them, the POCT analyser was used. Of these measurements, 64% were performed using venous blood and 36% using arterial blood. The results of POCT showed that 63% of tested patients had severe metabolic acidosis (pH<7.2+BE<-5mmol/l). Of these patients, 82% received buffering treatment with sodium bicarbonate. Potassium levels were markedly divergent normal (>6.0mmol/l / <2.5mmol/l) in 17% of tested patients and 14% of them received a potassium infusion. On average, the pre-hospital treatment time between arrival of the first emergency medical responders and the beginning of transport was 54 (+/- 20) min without POCT and 60 (+/- 17) min with POCT (p=0.07). Overall, 21% of patients survived to hospital discharge (POCT 30% vs no POCT 16%, p=0.01).Conclusions Using a POCT analyser in pre-hospital resuscitation allows rapid detection of pathological acid-base imbalances and potassium concentrations and often leads to specific interventions on scene and could improve the probability of survival.
The Peculiar Hydrology of West-Central Florida’s Sandhill Wetlands, Ponds, and Lakes – Part 2: Hydrogeologic Controls
Authors: Nowicki ReNae S , Rains Mark C , LaRoche Jason J , Downs Christine M , Kruse Sarah E
Published: May 2021

This study investigates hydrogeologic controls on a peculiar, poorly studied type of geographically isolated wetland in west-central Florida, USA, locally referred to as “sandhill wetlands.” Their peculiarity lies in their connectivity to a large, regional aquifer, which controls their hydrology and influences their ecological expression. Six wetlands and one wetland-pond complex were examined using geophysical, lithologic, hydrologic, and ecological data. These data were used to configure site-specific hydrogeology, from which two conceptual models were developed. The first model depicts mechanisms of sandhill wetland connectivity to the regional aquifer. Three mechanisms of connectivity are proposed based on the degree and depth of aquifer confinement: 1) direct - due to wetland embedment directly in the unconfined regional aquifer; 2) indirect - due to embedment in a surficial aquifer, where groundwater exchange with the regional aquifer occurs through breaches in the semi-confining unit; and 3) none - due to embedment in a surficial aquifer where groundwater exchange with the regional aquifer does not occur because the semi-confining unit is too deep. The second model conceptualizes fundamental sandhill wetland ecohydrology. It depicts how the geomorphology of a sandhill depression relative to the range of the regional water table determine whether that feature will manifest as a wetland or as a pond, lake, sink, or upland. Findings from both models contribute to the limited understanding of sandhill wetland, pond, and lake ecohydrology and may be used to improve how they are classified, assessed, managed, and preserved as valuable natural resources.
Mediational Links for the Severity of Anorexia and Bulimia a Path Analysis Study
Authors: Ortiz Geovanny Genaro Reivan , Perez Roser Granero , Rodas Patricia Ortiz
Published: May 2021

Background: to date there is empirical evidence on the associations between anorexia and bulimia nervosa with psychopathological constructs (anxiety, depression, perfectionism, emotional dysregulation) and sociodemographic characteristics (gender and place of origin). However, there are no studies that analyze the underlying mechanisms between these variables, which allow estimating the direct and indirect effects, including the possible mediational relationships in causal models of path analysis. Method: the study had a sample of 918 Ecuadorian university students from three places of origin. Results: The causal path analysis model indicates a significant and positive association between the variables depending on the place of origin of the participants. Likewise, the model obtained an adequate goodness of fit and good predictive capacity. Conclusions: The data suggest that the model of underlying relationships between the study variables for the risk of ED, anorexia nervosa and bulimia nervosa, is different depending on the place of origin. It is indicated for future studies to estimate the criterion in the clinical population and with repetitive measures over time. We believe that the study will provide a starting point in the design, implementation and evaluation of prevention programs for eating disorders at the primary action levels.