bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive Analysis of NGS and ARMS-PCR for Detecting EGFR mutations Based on 4467 Cases of NSCLC Patients
Authors: He Changlong , Wei Chengcheng , Wen Jun , Chen Shi , Chen Ling , Wu Yue , Shen Yifan , Bai Huili , Zhang Yangli , Chen Xueping , li xiaosong 
Published: June 2021

Abstract
BackgroundBy comparing the detection rate and type of targeted gene mutations in non-small cell lung cancer (NSCLC) between amplification refractory mutation system PCR (ARMS-PCR) and next generation sequencing (NGS), the characteristics and application advantages of non-small cell lung cancer detection are explained, providing a basis for clinicians to effectively select the corresponding detection methods.Methods and materials The cases of targeted genes for lung cancer were selected from the First Affiliated Hospital of Chongqing Medical University from January 2016 to October 2020. A sample of 4467 cases was selected，and they were diagnosed with NSCLC by Pathological biopsy. Sample sources include surgical resection, bronchoscope biopsy, metastatic biopsy, blood, sputum, cytology of pleural effusion. Among them, 3665 cases were detected by ARMS-PCR technique, and 802 cases were detected by NGS technology. The detection rate and type of ARMS-PCR and NGS techniques for EGFR gene mutations (including exon 18, exon 19, exon 20, exon 21 and so on) in different NSCLC samples were compared respectively.ResultsThe total mutation rate of EGFR gene detected by ARMS-PCR was 47.6% while 42.4% detected by NGS which indicated that there was a significant difference between the two methods in detecting total mutation of EGFR gene (P<0.001). In different exons, the EGFR mutation rate detected by two methods is various. The mutation rate of exon 19 by ARMS-PCR detection was evidently higher than that of NGS detection, while the mutation rate of exon 20 and 21 by ARMS-PCR detection were statistically significantly lower than that of NGS detection. Moreover, the multiple mutation rate detected by NGS was 16.3% which was much higher than the 2.7% detected by ARMS-PCR with statistically different. ConclusionsIt showed that NGS could direct the drug use for the resistant patients. However, some rare loci could be detected by NGS but the importance and directed meaning are still unknown and the number of rare mutations is rare too. Further research on new biomarkers and technique is still needed for early diagnosis, directing drug use and assessing the therapy prognosis.
Association of High Expression of Mitochondrial Fission Regulator 2 with Poor Survival of Patients with Esophageal Squamous Cell Carcinoma
Authors: Li Hongwei , Zhu Xingzhuang , Zhang Wei , Lu Wenjie , Liu Chuan , Ma Jinbo , Zhang Yang , Zang Rukun , Song Yipeng 
Published: June 2021

Abstract
Background: Mitochondrial fission regulator 2 (MTFR2) is associated with mitochondrial fission, while few studies has assessed the associations between MTFR2 expression and clinical characteristics and prognosis of esophageal squamous cell carcinoma (ESCC). Methods: We compared the expression of MTFR2 in 6 ESCC tumors and relative normal tissues by immunochemistry (IHC). To assess the effect of MTFR2 expression on clinicopathologic characteristics and survival, totally 115 paraffin embedded ESCC tissue samples were assessed by IHC staining. Furthermore, the associations between clinicopathological properties and MTFR2 expression in patients with ESCC was examined. The survival analysis was performed using the Cox regression models. Results: We found that MTFR2 expression was significantly increased in ESCC tumors compared with normal esophageal epithelial cells (NEECs). IHC analysis of 115 paraffin embedded ESCC tumor specimens of the patients showed that the expression of MTFR2 was significantly associated with clinical stage (P <0.001), tumor classification (P <0.001), histological grade (P<0.001), and other clinicopathological characteristics. Both univariate and multivariate analyses showed that MTFR2 expression was significantly associated with the survival of ESCC patients. Conclusion: The expression of MTFR2 is significantly associated with clinicopathologic characteristics and prognosis of ESCC. Thus, MTFR2 expression could serve as a potentially important prognostic biomarker and clinical target for patients with ESCC.
Influence of Adverse Childhood Experiences and Perfectionism on Musician’s Dystonia: A Case Control Study
Authors: Alpheis Stine , Altenmuller Eckart , Scholz Daniel Sebastian 
Published: June 2021

Abstract
Background: Musician’s dystonia (MD) is a task-specific movement disorder characterized by muscle cramps and impaired voluntary motor-control whilst playing a musical instrument. Recent studies suggest an involvement of adverse childhood experiences (ACEs) in the development of MD. Objectives: By investigating the prevalence of ACEs in MD patients with perfectionism as possible mediating factor this study aims to gain further insights into the etiology of MD.Methods: The Adverse Childhood Experiences Scale (ACE-S), the Childhood Trauma Questionnaire (CTQ) and Frost’s Multidimensional Perfectionism Scale (FMPS) were answered by 128 MD patients and 136 healthy musicians. Regression and mediator analyses were conducted to identify relevant predictors of MD and to investigate the role of perfectionism.Results: The CTQ total score (OR: 1.04; 95% CI [1.01, 1.08]) and the sub-score “emotional neglect” (OR: 1.13; 95% CI [1.02, 1.25]) were identified as two predictors of MD. Patients scored significantly higher than healthy controls on the sub-score emotional neglect, but no significant differences were observed for other forms of ACEs. Perfectionism had no mediating function on the association between ACEs and MD and the two groups did not differ in their FMPS score.Conclusion: Emotional neglect in childhood seems to be a risk factor in the development of musician’s dystonia. A possible explanation for this association could be a lower stress resilience in musicians with a history of ACEs, which increases vulnerability to acquire dysfunctional movement patterns. Further research is needed to investigate underlying psychological and neurological mechanisms of this association.
Ericaceous Vegetation of the Bale Mountains of Ethiopia Will Prevail in the Face of Climate Change.
Authors: Kidane Yohannes O , Hoffmann Samuel , Jaeschke Anja , Beloiu Mirela , Beierkuhnlein Carl 
Published: June 2021

Abstract
Climate change impacts ecosystem structure, functioning, and spatial distribution. Among others, it will result in a shift in ecosystem boundaries, which will result in the contraction of some vulnerable ecosystems, such as the alpine zone of high mountains. The African tropical high mountain ecosystems, i.e., Afroalpine ecosystems, are spatially extremely isolated and highly vulnerable. The ecosystems dominated by ericaceous woody plants are vital components at the transition between forests and Afroalpine vegetation. Here, we modeled the impact of projected climate change on the current and future distribution of ericaceous vegetation in the Bale Mountains. We hypothesize climate change will result in modified suitability of sites for ericaceous vegetation, leading to the expansion of ericaceous vegetation to higher elevation and contraction in other altitudes. Consequently, the expansion and dominance of ericaceous vegetation could negatively impact Afroalpine ecosystems. We applied and compared four modeling algorithms based on bioclimatic variables as environmental predictors: Generalized Linear Models (GLMs), Bioclim, Domain, and Support Vector Machines (SVM) algorithms. After testing for collinearity, we selected ten historical (current) and future bioclimatic variables. We used two representative concentration pathways (RCPs) of IPPC5 climate projections, namely RCP4.5 and RCP8.5, for future climate projection. The 2050s and 2070s projections resulted in increased ericaceous vegetation cover towards the midaltitude of northwestern and northern parts of the massif and the Sanetti plateau. Close ericaceous vegetation stands at high altitudes are projected to increase while receding from the lower range of the current distribution range across the massif. Moreover, the current ericaceous vegetation distribution is positively related to the temperature and precipitation trends, which reaffirms the critical role of temperature in shaping species distributions along elevational gradients. The results indicate the high likelihood for considerable changes in this biodiversity hotspot in Eastern Africa.
The contribution of rare whole genome sequencing variants to plasma protein levels and to the missing heritability
Authors: Kierczak Marcin , Rafati Nima , Höglund Julia , Gourle Hadrien , Schmitz Daniel , Ek Weronica , Enroth Stefan , Ekman Diana , Nystedt Björn , Karlsson Torgny , Johansson Åsa 
Published: June 2021

Abstract
Despite the success in identifying effects of common genetic variants, using genome-wide association studies (GWAS), much of the genetic contribution to complex traits remains unexplained. Here, we analysed high coverage whole-genome sequencing (WGS) data, to evaluate the contribution of rare genetic variants to 414 plasma proteins. The frequency distribution of genetic variants was skewed towards the rare spectrum, and damaging variants were more often rare. However, only 2.24% of the heritability was estimated to be explained by rare variants. A gene-based approach, developed to also capture the effect of rare variants, identified associations for 249 of the proteins, which was 25% more as compared to a GWAS. Out of those, 24 associations were driven by rare variants, clearly highlighting the capacity of aggregated tests and WGS data. We conclude that, while many rare variants have considerable phenotypic effects, their contribution to the missing heritability is limited by their low frequencies.
Long-term exposure to fine particulate constituents and all-cause mortality in Chinese adults
Authors: Liu Linjiong , Luo Siqi , Zhang Yuanyuan , Yang Zhiming , Zhou Peixuan , Mo Shaocai , Zhang Yunquan 
Published: June 2021

Abstract
Background Limited evidence exists about the long-term effects of fine particulate matter (PM2.5) constituents on mortality, especially in developing regions with moderate-to-high pollution levels. Hence, we aimed to assess the associations of long-term exposure to PM2.5 constituents with all-cause mortality in China.Methods We designed a nationwide cohort study of 30,524 adults from the China Family Panel Studies with follow-ups through the years 2010 to 2017. Annual county-level exposures of PM2.5 mass and its 5 constituents (black carbon [BC], organic matter [OM], nitrate [NO3−], ammonium [NH4+] and sulfate [SO42−]) were assessed by satellite-derived estimates across the 162 counties where participants resided at baseline. Cox proportional hazards models with time-varying exposures were employed to quantify associations of all-cause mortality with long-term exposure to PM2.5 and constituents.Results A total of 1210 death events occurred during the 172,297.7 person-years of follow-up. Multi-adjusted Cox model estimated an hazard ratio (HR) of 1.125 (95% confidence interval: 1.058–1.197) for all-cause mortality, associated with per interquartile range (IQR = 26.7 μg/m3) increase in exposure to PM2.5 mass. Highly comparable associations were found among all PM2.5 constituents of study, with the HRs ranging from 1.113 [1.006–1.231] for SO42-(IQR = 5.6 μg/m3) to 1.141 [1.048–1.243] for NO3- (IQR = 8.7 μg/m3). PM2.5 constituents-mortality associations varied by subpopulations and regions, with the larger magnitudes in males, smokers, alcohol drinkers, and urban residents.Conclusions Long-term exposure to specific PM2.5 constituents (i.e., BC, OM, NO3-, NH4+ and SO42-) were associated with all-cause mortality in Chinese adults. These associations were more pronounced in males, smokers, alcohol drinkers, and urban residents. Our study provides the brand-new evidence for chronic health effects of PM2.5 constituents on human mortality in China.
Significant variations of dangerous exposures during COVID-19 pandemic in Italy: a possible association with the containment measures implemented to reduce the virus transmission
Authors: Giordano Felice , Petrolini Valeria Margherita , Spagnolo Domenico , Fidente Rosanna Maria , Lanciotti Lucrezia , Baldassarri Lucilla , Moretti Francesco Luca , Brambilla Elena , Lonati Davide , Schicchi Azzurra , Locatelli Carlo Alessandro , Draisci Rosa 
Published: June 2021

Abstract
Background: In response to the COVID-19 health emergency, mass media widely spread guidelines to stop the virus transmission, leading to an excessive and unaware use of detergents and disinfectants. In Italy and in other countries this tendency caused a significant increase of exposures to these products in 2020. Evaluating data collected by the Italian Pavia Poison Centre (PPC), this study intends to examine the relationship between the COVID-19 lockdown and the variations of exposures to specific product categories possibly associated to the containment measures implemented.Simultaneously, this work shows the effectiveness of the European Products Categorisation System (EuPCS) in surveillance activities of dangerous chemicals.Methods: Exposure cases managed by the PPC during March-May 2020 (lockdown) and during the same months of 2017-2018-2019 were compared. Differences in categorical variables were tested with the Chi-square test. The level of significance was set at Alpha = 0.05. The study included all EuPCS groups but specifically focused on cleaners, detergents, biocides and cosmetics. Results: During the lockdown calls from private citizens significantly increased (+11.5%, p<0.001) and occupational exposures decreased (-11.7%, p<0.05). Among Cleaners, exposures to Bleaches slightly increased while Drain cleaning products went through a significant reduction (-13.9%, p<0.05). An increase of exposures to Disinfectants was observed (+7.7%, p<0.01), particularly to those for surfaces (+6.8%, p<0.05). Regarding Cosmetics, both handwashing soaps and gel products significantly increased (respectively: +25.0 and +9.7%, p<0.05).Among children 1-5 years, the statistical significance is reached with exposures to Dishwashing detergents (+13.1%), handwashing soaps (+28.6%, p<0.05) and handwashing gel products (+16.8%, p=0.01). Contrarily, Liquid Laundry Detergent Capsules significantly decreased (-25%; p=0.001). The general severity of exposures decreased (Moderate: -10.1%, p<0.001). Conclusions: This study investigated the relationship between the COVID-19 lockdown and the variations of exposures to some product categories related to the containment measures. The results obtained support any action to be taken by Competent Authorities to implement measures for a safer use of cleaners/disinfectants. This paper shows the benefit in applying the EuPCS to categorize products according to their intended use, though an extension of this system to products not covered by CLP Regulation may be a further advantage.
Markovian Approach To The Frequency Of Tropical Cyclones And Subsequent Development Of Univariate Prediction Model
Authors: Bhowmick Shreya , Chattopadhyay Surajit 
Published: June 2021

Abstract
Tropical cyclones is one of the most devastating meteorological events. In the recent years we faced some very severe cyclones to super cyclone successively that caused heavy damages to life and property during the helpless situations of the global pandemic. In this paper, westudied the frequency of cyclones from the year 1891 to 2019 i.e. for 129 years on the Arabian Sea Basin, Bay of Bengal Basin and land. We have categorised the cyclones according to their wind speeds: i) Cyclonic storms and Severe cyclonic storms(CS + SCS) and ii) Depressions, Cyclonic storms and Severe Cyclonic storms(D + CS + SCS) where Depressions, Cyclonic storms and Severe Cyclonic storms have wind speeds of more than equal to 17 knots, 34 knots and 48 knots respectively. We examined the Markovian dependence of the discretized time series of the two categories mentioned earlier for the first, second, third and fourth order of a two-state Markov chain model. It is found that CS + SCS represents the First Order Two State (FOTS) model of Markov chain and D + CS + SCS represents the Second Order Two State (SOTS) model of Markov chain. Thereafter we have developed autoregressive models for the two categories and checked its goodness of fit using Willmott’s indices of order 1 and 2. Its is found that CS + SCS best represents the autoregressive model of order 5 whereas D + CS + SCS could not be efficiently represented by the developed autoregressive models. So we further developed autoregressive neural networks for D + CS + SCS and obtained some significant hike in the prediction yield. Nevertheless, it is found that both the categories are clearly not serially independent.
The water, food and energy nexus
Authors: Kheirinejad Shima , Bozorg-Haddad Omid , Gude Veera Gnaneswar 
Published: June 2021

Abstract
The water, food and energy nexus is a critical component for sustainable development as global population and industrialization escalate. Agriculture is responsible for the majority of freshwater consumption worldwide, while one quarter of the world's energy is spent on food production and consumption. The connections between such vital areas necessitates a profound and integrated approach to securing the water, food and energy sectors across the world. Such an integrated approach should be based upon understanding the nexus between the three individual sectors, and on coordinating the interactions between them. As the global population is expected to reach 8 billion (8 × 109) by 2030, demands for essential services and higher living standards are becoming prevalent, and the need for conscious protection of vital resources – without which, meeting those demands and desires would be impossible – is more palpable than ever. Considering the impact of water and environmental crises on food and energy security, the integrated management of water, food and energy with the collaboration of all stakeholders could result in a significant check on any detrimental changes. Due to the critical importance of food, water and energy security, policies should be implemented to conserve and protect these essential resources. Therefore, it is very important to understand the logic governing this issue, and, in this chapter, definitions and logical approaches that govern the concept of the water, food and energy nexus, the potential crises ahead, and the effective management solutions, tools, and methods used in this field are all discussed, using case studies and examples.
Using Infodemiology Metrics to Assess Public Interest in Liver Transplantation: Google Trends Analysis
Authors: Effenberger Maria , Kronbichler Andreas , Bettac Erica , Grabherr Felix , Grander Christoph , Adolph Timon Erik , Mayer Gert , Zoller Heinz , Perco Paul , Tilg Herbert 
Published: June 2021

Background
Liver transplantation (LT) is the only curative treatment for end-stage liver disease. Less than 10% of global transplantation needs are met worldwide, and the need for LT is still increasing. The death rates on the waiting list remain too high.

Objective
It is, therefore, critical to raise awareness among the public and health care providers and in turn increasingly acquire donors.

Methods
We performed a Google Trends search using the search terms liver transplantation and liver transplant on October 15, 2020. On the basis of the resulting monthly data, the annual average Google Trends indices were calculated for the years 2004 to 2018. We not only investigated the trend worldwide but also used data from the United Network for Organ Sharing (UNOS), Spain, and Eurotransplant. Using pairwise Spearman correlations, Google Trends indices were examined over time and compared with the total number of liver transplants retrieved from the respective official websites of UNOS, the Organización Nacional de Trasplantes, and Eurotransplant.

Results
From 2004 to 2018, there was a significant decrease in the worldwide Google Trends index from 78.2 in 2004 to 20.5 in 2018 (–71.2%). This trend was more evident in UNOS than in the Eurotransplant group. In the same period, the number of transplanted livers increased worldwide. The waiting list mortality rate was 31% for Eurotransplant and 29% for UNOS. However, in Spain, where there are excellent awareness programs, the Google Trends index remained stable over the years with comparable, increasing LT numbers but a significantly lower waiting list mortality (15%).

Conclusions
Public awareness in LT has decreased significantly over the past two decades. Therefore, novel awareness programs should be initialized.
Gallbladder agenesis and enterogastric reflux in an adult patient diagnosed by Tc99m HIDA SPECT-CT scintigraphy: a case report
Authors: Gillani Farkhanda , Imran Muhammad Babar , Gill Owais Qadeer , Amin Imran , Afzal Muhammad Shahzad 
Published: June 2021

Background:
Gallbladder agenesis is an extremely rare, usually asymptomatic anatomic variation. Enterogastric reflux (EGR) in a patient with gallbladder agenesis was not reported previously. We report a rare case of EGR in a patient with gallbladder agenesis, diagnosed on 99mTc HIDA (hepatobilliary iminodiacetic acid) SPECT-CT (single-photon emission computed tomography-computed tomography) scintigraphy.

Case Presentation:
A 35-year-old female was referred to Nuclear Medicine Department for Tc99m HIDA scan. She had history of surgical exploration to remove the gallbladder due to suspicion of chronic cholecystitis. But intraoperatively gallbladder was not localized and the patient was referred for Tc99m HIDA scan. Tc99m HIDA scan along with SPECT-CT showed reflux of tracer into the stomach and non-visualized gallbladder. Further imaging by magnetic resonance cholangiopancreatography confirmed the diagnosis of congenital absence of the gallbladder.

Conclusion:
We conclude that 99mTc HIDA SPECT-CT scintigraphy is helpful in evaluating the true etiology of biliary colic. It should be cautiously reported, mentioning the EGR if present as it may be the true etiology of biliary colic in patients with and without gall bladder. It prevents the added morbidity of surgery, performed with the suspicion of cholecystitis.