bluuebunny/crossref_metadata_2025 huggingface dataset:
Electrocution Stigmas in Organ Damage: The Pathological Marks
Authors: Mansueto Gelsomina , Di Napoli Mario , Mascolo Pasquale , Carfora Anna , Zangani Pierluca , Pietra Bruno Della , Campobasso Carlo Pietro
Published: April 2021

Background: Diagnostic criteria for electrocution related death are still a challenge in forensic pathology and it seems that the electrical mark is the only reliable evidence. Methods: A comparison of histological and morphological findings of skin and internal organs from an autopsy series of electrocution deaths with those mostly reported in literature as representative for electrocution. Results: The morphological changes of heart, brain and other main internal organs are still unspecific. Organ’s damage observed in electrocution deaths shows a wide variability, not reliable for a certain diagnosis of electrocution. The electrical mark is still the golden standard for diagnosis of electrocution. Conclusions: In electrocution related deaths, pathological findings of the main internal organs are not enough evidence to support with certainty a post-mortem diagnosis that a victim suffered an electrical damage. Although the organ histological changes are undoubtedly the starting point for a better understanding of the fatal even, the diagnosis of death from electrical damage is still a dark and unsolved chapter. The electrical mark still represents a fundamental indicator above all in the medical-legal field, but the identification of pathognomonic elements and signs not limited to the skin alone could be a valid help in the future, especially in unclear cases.
Mitral Valve Prolapse, Arrhythmias, and Sudden Cardiac Death: The Role of Multimodality Imaging to Detect High-Risk Features
Authors: Pavon Anna Giulia , Monney Pierre , Schwitter Juerg
Published: April 2021

Mitral valve prolapse (MVP) was first described in the 1960s, and it is usually a benign condition. However, a subtype of patients are known to have a higher incidence of ventricular arrhythmias and sudden cardiac death, the so called “arrhythmic MVP.” In recent years, several studies have been published to identify the most important clinical features to distinguish the benign form from the potentially lethal one in order to personalize patient’s treatment and follow-up. In this review, we specifically focused on red flags for increased arrhythmic risk to whom the cardiologist must be aware of while performing a cardiovascular imaging evaluation in patients with MVP.
Radiomic Feature Reduction Approach to Predict Breast Cancer by Contrast-Enhanced Spectral Mammography Images
Authors: Massafra Raffaella , Bove Samantha , Lorusso Vito , Biafora Albino , Comes Maria Colomba , Didonna Vittorio , Diotaiuti Sergio , Fanizzi Annarita , Nardone Annalisa , Nolasco Angelo , Ressa Cosmo Maurizio , Tamborra Pasquale , Terenzio Antonella , La Forgia Daniele
Published: April 2021

Contrast-enhanced spectral mammography (CESM) is an advanced instrument for breast care that is still operator dependent. The aim of this paper is the proposal of an automated system able to discriminate benign and malignant breast lesions based on radiomic analysis. We selected a set of 58 regions of interest (ROIs) extracted from 53 patients referred to Istituto Tumori “Giovanni Paolo II” of Bari (Italy) for the breast cancer screening phase between March 2017 and June 2018. We extracted 464 features of different kinds, such as points and corners of interest, textural and statistical features from both the original ROIs and the ones obtained by a Haar decomposition and a gradient image implementation. The features data had a large dimension that can affect the process and accuracy of cancer classification. Therefore, a classification scheme for dimension reduction was needed. Specifically, a principal component analysis (PCA) dimension reduction technique that includes the calculation of variance proportion for eigenvector selection was used. For the classification method, we trained three different classifiers, that is a random forest, a naïve Bayes and a logistic regression, on each sub-set of principal components (PC) selected by a sequential forward algorithm. Moreover, we focused on the starting features that contributed most to the calculation of the related PCs, which returned the best classification models. The method obtained with the aid of the random forest classifier resulted in the best prediction of benign/malignant ROIs with median values for sensitivity and specificity of 88.37% and 100%, respectively, by using only three PCs. The features that had shown the greatest contribution to the definition of the same were almost all extracted from the LE images. Our system could represent a valid support tool for radiologists for interpreting CESM images.
Generation of Augmented Capillary Network Optical Coherence Tomography Image Data of Human Skin for Deep Learning and Capillary Segmentation
Authors: Mekonnen Bitewulign Kassa , Hsieh Tung-Han , Tsai Dian-Fu , Liaw Shien-Kuei , Yang Fu-Liang , Huang Sheng-Lung
Published: April 2021

The segmentation of capillaries in human skin in full-field optical coherence tomography (FF-OCT) images plays a vital role in clinical applications. Recent advances in deep learning techniques have demonstrated a state-of-the-art level of accuracy for the task of automatic medical image segmentation. However, a gigantic amount of annotated data is required for the successful training of deep learning models, which demands a great deal of effort and is costly. To overcome this fundamental problem, an automatic simulation algorithm to generate OCT-like skin image data with augmented capillary networks (ACNs) in a three-dimensional volume (which we called the ACN data) is presented. This algorithm simultaneously acquires augmented FF-OCT and corresponding ground truth images of capillary structures, in which potential functions are introduced to conduct the capillary pathways, and the two-dimensional Gaussian function is utilized to mimic the brightness reflected by capillary blood flow seen in real OCT data. To assess the quality of the ACN data, a U-Net deep learning model was trained by the ACN data and then tested on real in vivo FF-OCT human skin images for capillary segmentation. With properly designed data binarization for predicted image frames, the testing result of real FF-OCT data with respect to the ground truth achieved high scores in performance metrics. This demonstrates that the proposed algorithm is capable of generating ACN data that can imitate real FF-OCT skin images of capillary networks for use in research and deep learning, and that the model for capillary segmentation could be of wide benefit in clinical and biomedical applications.
Three-Dimensional Urethral Profilometry—A Global Urethral Pressure Assessment Method
Authors: Szepieniec Wioletta Katarzyna , Szweda Hanna , Wróblewski Maksym , Szymanowski Paweł
Published: April 2021

Background: To present a new method of urethral pressure examination, and to evaluate diagnostic capabilities of three-dimensional profilometry, as an alternative to classical urethral profile (UPP). Using five channel catheters and dedicated software, a global urethral pressure image is obtained. The method eliminates the main limitation of classical urethral profilometry, where the catheter orientation determines the pressure picture limited to only one point in the urethral circumference; we observed up to 50% differences in pressure measures depending on the point of urethral circumference where the measurement was taken. Methods: This is a preliminary study containing a method presentation and analysis of the use in varied clinical cases of either healthy patients or patients with lower urinary tract symptoms (LUTS). The article includes a technique and equipment description and a full evaluation of selected cases, including three-dimensional urethral pressure distribution graphics. Results and Conclusions: Three-dimensional profilometry compared to the classical technique is comparable regarding the time, cost, technical difficulty and patient discomfort. At the same time, we obtained much more data on the urethral pressure and its distribution. The results are easy to interpret due to the 3D movable graphics created automatically by the dedicated software.
Bridging Digital Inequalities in Rural Schools in Germany: A Geographical Lottery?
Authors: Rundel Christina , Salemink Koen
Published: April 2021

Repeatedly, it has been argued that advancements in digitalisation could be beneficial for rural areas. However, digital inequalities persist and affect rural communities as well. Schools can play a key role in bridging digital inequalities, but little attention has been paid to the specific conditions rural schools find themselves in when facing continuous digital developments. Therefore, we apply the digital inclusion lens and explore the impact of digital developments on rural schools in the German context. In 2019, we conducted 16 in-depth interviews with heads and teachers from rural elementary and secondary schools in Baden-Wurttemberg and Lower Saxony. We found that smaller rural schools especially can experience difficulties and conclude that the contribution of schools to a digital-included society is subject to a geographical lottery. This could eventually increase existing rural–urban digital inequalities and these findings are also relevant in light of the COVID-19 pandemic, forcing a sudden switch to distance learning.
Open Source Languages and Methods for Cyber-Physical System Development: Overview and Case Studies
Authors: Buffoni Lena , Ochel Lennart , Pop Adrian , Fritzson Peter , Fors Niklas , Hedin Görel , Taha Walid , Sjölund Martin
Published: April 2021

Industrial cyber-physical system products interleave hardware, software, and communication components. System complexity is increasing simultaneously with increased demands on quality and shortened time-to-market. To effectively support the development of such systems, we present languages and tools for comprehensive integrated model-based development that cover major phases such as requirement analysis, design, implementation, and maintenance. The model-based approach raises the level of abstraction and allows to perform virtual prototyping by simulating and optimizing system models before building physical products. Moreover, open standards and open source implementations enable model portability, tool reuse and a broader deployment. In this paper we present a general overview of the available solutions with focus on Modelica/OpenModelica, Bloqqi, and Acumen. The paper presents contributions to these languages and environments, including symbolic-numeric modeling, requirement verification, code generation, model debugging, design optimization, graphical modeling, and variant handling with traceability, as well a general discussion and conclusions.
A New Active Control Driver Circuit for Satellite’s Torquer System Using Second Generation Current Conveyor
Authors: Verma Vijay Kumar , Ranjan Rajeev Kumar , Prince Pallav , Appasani Bhargav , Bizon Nicu , Thounthong Phatiphat
Published: April 2021

In this article a new active control driver circuit is designed using the second-generation current conveyor for the satellite’s torquer system. The torquer plays an important role in the attitude control of the satellite. Based on the magneto-meter data, the satellite’s microprocessor calculates the required current for the torque and sends a reference command. A close loop control system is designed, which generates the desired output current. The parameters of the controller are optimized using a variant of the well-known evolutionary algorithm, the genetic algorithm (GA). This variant is known as the segmented GA. The controller is experimentally implemented using the commercially available integrated circuit, the AD844. The error between the experimental and simulation results has RMS values in range of 0.01–0.16 A for the output current and 0.41–0.6 V for the output voltage. It has mean value of 0.01 A for the output current and has mean values in the range of 0.33–0.48 V for the output voltage. It has standard deviation of 0.01 A for the output current and standard deviations in the range of 0.24–0.35 V for the output voltage. Thus, there is a close match between the simulation and experimental results, validating the design approach. These designs have many practical applications, particularly for nanosatellites powered by photovoltaic panels.
Total Cost of Ownership and Its Potential Consequences for the Development of the Hydrogen Fuel Cell Powered Vehicle Market in Poland
Authors: Wróblewski Piotr , Drożdż Wojciech , Lewicki Wojciech , Dowejko Jakub
Published: April 2021

Electromobility is a growing technology for land transport, constituting an important element of the concept of sustainable economic development. The article presents selected research results concerning one of the segments of this market-vehicles powered by hydrogen fuel cells. The subject of the research was to gain extensive knowledge on the economic factors influencing the future purchasing decisions of the demand side in relation to this category of vehicles. The research was based on a numerical experiment. For this purpose, a comparative analysis of purchase prices in relation to the TCO of the vehicle after 3–5 years of use was performed. The research included selected models that are powered by both conventional and alternative fuels. The use of this method will allow to assess the real costs associated with the hydrogen vehicle. The authors emphasize the important role of economic factors in the form of the TCO index for the development of this market. The experimental approach may be helpful in understanding the essence of economic relations that affect the development of the electro-mobility market and the market demand for hydrogen fuel cell-powered vehicles in Poland.
Prediction of Deflagrative Explosions in Variety of Closed Vessels
Authors: Rudy Wojciech , Pekalski Andrzej , Makarov Dmitriy , Teodorczyk Andrzej , Molkov Vladimir
Published: April 2021

In this paper the multi-phenomena deflagration model is used to simulate deflagrative combustion of several fuel–air mixtures in various scale closed vessels. The experimental transient pressure of methane–air, ethane–air, and propane–air deflagrations in vessels of volume 0.02 m3, 1 m3, and 6 m3 were simulated. The model includes key mechanisms affecting propagation of premixed flame front: the dependence of laminar burning velocity of concentration, pressure, and temperature; the effect of preferential diffusion in the corrugated flame front or leading point concept; turbulence generated by flame front itself or Karlovitz turbulence; increase of the flame front area with flame radius by fractals; and turbulence in the unburned mixture. Laminar velocity dependence on concentration, pressure, and temperature were calculated using CANTERA software. Various scale and geometry of used vessels induces various combustion mechanism. Simulations allow insight into the dominating mechanism. The model demonstrated an acceptable predictive capability for a variety of fuels and vessel sizes.
Researching on the Deterministic Channel Models for Urban Microcells Considering Diffraction Effects
Authors: Hou Chunzhi , Wu Zhensen , Wu Jiaji , Cao Yunhua , Lin Leke , Guo Xiangming , Lu Changsheng
Published: April 2021

Deterministic channel models, such as the three-dimensional (3D) ray launching method, can yield wireless channel parameters. In the non-line-of-sight (NLOS) propagation, the outdoor 3D ray launching method that considers diffraction effects is more accurate than the one that does not. While considering the diffraction effect, obtaining the diffraction point is challenging. This paper proposed a method for determining diffracted rays using the receiving sphere method in 3D ray launching. The diffraction point is determined using the shortest distance method between two straight lines, and the signal loss from the transmitting to receiving antennas is obtained. Furthermore, experiments on a millimeter wave in a microcell scenario were performed. The test results of the wireless channel parameters were compared with theoretical calculations. The results obtained via the 3D ray launching method that only considers the specular reflection and direct rays agree with the experimental results in the line-of-sight (LOS); furthermore, they generate larger errors compared with the experimental results in the NLOS. The results obtained via the 3D ray launching method that considers the direct ray, reflected rays, and diffracted rays agree with the experimental results both in the LOS and NLOS. Therefore, the 3D ray launching method that considers the diffraction effect can improve the prediction accuracy of the millimeter wave channel parameters in a microcell.
Productivity of Black Locust (Robinia pseudoacacia L.) Grown on a Varying Habitats in Southeastern Poland
Authors: Kraszkiewicz Artur
Published: April 2021

This study investigated growth performances of black locust (Robinia pseudoacacia L.) tree species in various soil and agro-climatic conditions in Poland. Implementing of research was based on monoculture black locust stands in which it was possible to carry out dendrometric tests allowing us to learn about their volume. These stands were located on marginal soils. In the sample plots selected for the study, the parameters of stands (main and secondary) were determined, such as number and social structure of trees, average tree height, average diameter at breast height (DBH), and volume. The volume was determined with division into trunks and branches and wood thickness classes (0.0–1.0 cm, 1.1–5.0 cm, 5.1–10.0 cm and then every 5 cm). During the research, it was found that sunlight and moisture conditions mainly affect the volume. It has been noticed that the content of nutrients in the soil plays a minor role because black locust grows very well in poorly fertile soils, often subject to erosion processes. Black locust grows well on damp, shaded slopes with northern exposures. In such areas, the stand volume was the highest (353.8 m3 ha−1), exceeding the average volume of the remaining 35-year-old stands on sandy soils by 60%. Along with the increase in the age of stands, the share of trunk wood increased with the wood of branches. The share of wood up to 5.0 cm was small in older stands, at most a dozen or so percent. However, in young stands (4- and 8-year-old), the share of the thickness class up to 5 cm was even 65% of the stand volume. In 35-year-old stands, wood fractions of 15.1–20.0 cm were dominant. In the oldest, 64-year-old stand, over 30 cm thick wood constituted 44% of the stand volume. However, statistical analysis showed, with p = 0.1644, no differences existed between the thickness of the individual thickness classes.
Security Challenges of Location Privacy in VANETs and State-of-the-Art Solutions: A Survey
Authors: Khan Shawal , Sharma Ishita , Aslam Mazzamal , Khan Muhammad Zahid , Khan Shahzad
Published: April 2021

A Vehicular Ad-hoc Network (VANET) comprises a group of moving or stationary vehicles connected by a wireless network. VANETs play a vital role in providing safety and comfort to drivers in vehicular environments. They provide smart traffic control and real-time information, event allocation. VANETs have received attention in support of safe driving, intelligent navigation, emergency and entertainment applications in vehicles. Nevertheless, these increasingly linked vehicles pose a range of new safety and security risks to both the host and its associated properties and may even have fatal consequences. Violations of national privacy and vehicle identities are a major obstacle to introducing forced contact protocols in vehicles. Location privacy refers to the privacy of the vehicle (driver) and the location of the vehicle. Whenever a vehicle sends a message, no one but authorized entities should know their real identity and location of the vehicle. All the messages sent by the vehicle must be authenticated before processing, hence location privacy is an important design aspect to be considered in VANETs operations. The novelty of this paper is that it specifically reviews location privacy in VANETs in terms of operational and safety concerns. Furthermore, it presents a critical analysis of various attacks, identity thefts, manipulation and other techniques in vogue for location privacy protection available in state-of-the-art solutions for VANETs. The efforts in this paper will help researchers to develop a great breadth of understanding pertaining to location privacy issues and various security threats encountered by VANETs and present the critical analysis of the available state-of-the- art solutions to maintain location privacy in VANETs.
MALDI-TOF MS Based Typing for Rapid Screening of Multiple Antibiotic Resistance E. coli and Virulent Non-O157 Shiga Toxin-Producing E. coli Isolated from the Slaughterhouse Settings and Beef Carcasses
Authors: Elabbasy Mohamed Tharwat , Hussein Mohamed A. , Algahtani Fahad Dhafer , Abd El-Rahman Ghada I. , Morshdy Alaa Eldin , Elkafrawy Ibrahim A. , Adeboye Adeniyi A.
Published: April 2021

Background: The emergence of multiple antibiotic resistance (MAR) Escherichia coli (E. coli) and virulent non-O157 Shiga toxin-producing Escherichia coli (STEC) poses a growing concern to the meat industry. Non-O157 STEC strains including O26, O45, O103, O111, O121, and O145 have been implicated in the occurrence of bloody diarrhea and hemolytic uremic syndrome in humans. This research assessed prevalence, matrix-assisted laser desorption/ionization-time of flight mass-spectrometry (MALDI-TOF MS) protein mass-spectra profiles, multidrug-resistance traits, polymerase chain reaction detection of virulence, and antibiotic-resistance genes of E. coli isolated from beef carcasses and slaughterhouse environments. Methods: A total of 180 convenience sponge samples were collected from two different sources-specific parts of beef carcasses and surfaces of the processing environment at the slaughterhouse of Ha′il, Saudi Arabia between September and November 2020. MALDI BioTyper and phylotype-based identification methods accurately identified and classified the samples as belonging to the genus belonging to the Escherichia coli domain of bacteria (NCBI txid: 562). Results: Expected changes were seen in the mass peak spectrum defining nine closely related isolates and four unrelated E. coli isolates. Serological typing of E. coli revealed enterotoxigenic E. coli O166 (19.10%); enteropathogenic E. coli O146 (16.36%) and O44 (18.18%); enterohemorrhagic E. coli O111 (31.18%) and O26 (14.54%). Forty-five percent of examined E. coli were resistant to seven antimicrobials; 75% of 20 selected isolates were resistant to three or more antimicrobials. phoA and blaTEM genes were detected in all selected E. coli isolates. Conclusion: This study confirmed the efficiency and validity of Matrix-assisted laser desorption/ionization time of flight mass-spectrometry in screening for multi-drug resistant E. coli isolated from slaughterhouse derived beef carcasses in Ha’il, Saudi Arabia. We contributed by revealing the distinction between related and non-related strains of E.coli in livestock. The findings in this study can inform improved policy development decision making and resource allocation related to livestock processing regarding antimicrobial use in food animals and rapid screening for effective multiple antibiotic resistance E. coli and virulent non-O157 STEC control in the slaughterhouses.
Modernization of Control of Pathogenic Micro-Organisms in the Food-Chain Requires a Durable Role for Immunoaffinity-Based Detection Methodology—A Review
Authors: Bergwerff Aldert A. , Debast Sylvia B.
Published: April 2021

Food microbiology is deluged by a vastly growing plethora of analytical methods. This review endeavors to color the context into which methodology has to fit and underlines the importance of sampling and sample treatment. The context is that the highest risk of food contamination is through the animal and human fecal route with a majority of foodborne infections originating from sources in mass and domestic kitchens at the end of the food-chain. Containment requires easy-to-use, failsafe, single-use tests giving an overall risk score in situ. Conversely, progressive food-safety systems are relying increasingly on early assessment of batches and groups involving risk-based sampling, monitoring environment and herd/flock health status, and (historic) food-chain information. Accordingly, responsible field laboratories prefer specificity, multi-analyte, and high-throughput procedures. Under certain etiological and epidemiological circumstances, indirect antigen immunoaffinity assays outperform the diagnostic sensitivity and diagnostic specificity of e.g., nucleic acid sequence-based assays. The current bulk of testing involves therefore ante- and post-mortem probing of humoral response to several pathogens. In this review, the inclusion of immunoglobulins against additional invasive micro-organisms indicating the level of hygiene and ergo public health risks in tests is advocated. Immunomagnetic separation, immunochromatography, immunosensor, microsphere array, lab-on-a-chip/disc platforms increasingly in combination with nanotechnologies, are discussed. The heuristic development of portable and ambulant microfluidic devices is intriguing and promising. Tant pis, many new platforms seem unattainable as the industry standard. Comparability of results with those of reference methods hinders the implementation of new technologies. Whatever the scientific and technological excellence and incentives, the decision-maker determines this implementation after weighing mainly costs and business risks.
Motivations Associated with Food Choices and Eating Practices
Authors: Guiné Raquel P. F.
Published: April 2021

The principal reason that influences people’s eating characteristics is to satisfy basic body stimuli, like feeling hunger and the need for satiety [...]
Authenticity Assessment and Fraud Quantitation of Coffee Adulterated with Chicory, Barley, and Flours by Untargeted HPLC-UV-FLD Fingerprinting and Chemometrics
Authors: Núñez Nerea , Saurina Javier , Núñez Oscar
Published: April 2021

Coffee, one of the most popular drinks around the world, is also one of the beverages most susceptible of being adulterated. Untargeted high-performance liquid chromatography with ultraviolet and fluorescence detection (HPLC-UV-FLD) fingerprinting strategies in combination with chemometrics were employed for the authenticity assessment and fraud quantitation of adulterated coffees involving three different and common adulterants: chicory, barley, and flours. The methodologies were applied after a solid–liquid extraction procedure with a methanol:water 50:50 (v/v) solution as extracting solvent. Chromatographic fingerprints were obtained using a Kinetex® C18 reversed-phase column under gradient elution conditions using 0.1% formic acid aqueous solution and methanol as mobile phase components. The obtained coffee and adulterants extract HPLC-UV-FLD fingerprints were evaluated by partial least squares regression-discriminants analysis (PLS-DA) resulting to be excellent chemical descriptors for sample discrimination. One hundred percent classification rates for both PLS-DA calibration and prediction models were obtained. In addition, Arabica and Robusta coffee samples were adulterated with chicory, barley, and flours, and the obtained HPLC-UV-FLD fingerprints subjected to partial least squares (PLS) regression, demonstrating the feasibility of the proposed methodologies to assess coffee authenticity and to quantify adulteration levels (down to 15%), showing both calibration and prediction errors below 1.3% and 2.4%, respectively.
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing
Authors: Alvarez-Mora Maria Isabel , Corominas Jordi , Gilissen Christian , Sanchez Aurora , Madrigal Irene , Rodriguez-Revenga Laia
Published: April 2021

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in TRAPPC9 gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing.
Low JAK2 V617F Allele Burden in Ph-Negative Chronic Myeloproliferative Neoplasms Is Associated with Additional CALR or MPL Gene Mutations
Authors: Makarik Tatiana V. , Abdullaev Adhamjon O. , Nikulina Elena E. , Treglazova Svetlana A. , Stepanova Elena E. , Subortseva Irina N. , Kovrigina Alla M. , Melikyan Anait L. , Kulikov Sergei M. , Sudarikov Andrey B.
Published: April 2021

JAK2 (Janus kinase 2) V617F, CALR (Calreticulin) exon 9, and MPL (receptor for thrombopoietin) exon 10 mutations are associated with the vast majority of Ph-negative chronic myeloproliferative neoplasms (MPNs). These mutations affect sequential stages of proliferative signal transduction and therefore, after the emergence of one type of mutation, other types should not have any selective advantages for clonal expansion. However, simultaneous findings of these mutations have been reported by different investigators in up to 10% of MPN cases. Our study includes DNA samples from 1958 patients with clinical evidence of MPN, admitted to the National Research Center for Hematology for genetic analysis between 2016 and 2019. In 315 of 1402 cases (22.6%), CALR mutations were detected. In 23 of these 315 cases (7.3%), the JAK2 V617F mutation was found in addition to the CALR mutation. In 16 from 24 (69.6%) cases, with combined CALR and JAK2 mutations, V617F allele burden was lower than 1%. A combination of JAK2 V617F with MPL W515L/K was also observed in 1 out of 1348 cases, only. JAK2 allele burden in this case was also lower than 1%. Additional mutations may coexist over the low background of JAK2 V617F allele. Therefore, in cases of detecting MPNs with a low allelic load JAK2 V617F, it may be advisable to search for other molecular markers, primarily mutations in exon 9 of CALR. The load of the combined mutations measured at different time points may indicate that, at least in some cases, these mutations could be represented by different clones of malignant cells.
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Authors: Arteche-López Ana , Gómez Rodríguez Maria José , Sánchez Calvin Maria Teresa , Quesada-Espinosa Juan Francisco , Lezana Rosales Jose Miguel , Palma Milla Carmen , Gómez-Manjón Irene , Hidalgo Mayoral Irene , Pérez de la Fuente Rubén , Díaz de Bustamante Arancha , Darnaude María Teresa , Gil-Fournier Belén , Ramiro León Soraya , Ramos Gómez Patricia , Sierra Tomillo Olalla , Juárez Rufián Alexandra , Arranz Cano Maria Isabel , Villares Alonso Rebeca , Morales-Pérez Pablo , Segura-Tudela Alejandro , Camacho Ana , Nuñez Noemí , Simón Rogelio , Moreno-García Marta , Alvarez-Mora Maria Isabel
Published: April 2021

Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome.
Radiogenic Pb Enrichment of Mississippi Valley-Type Metallic Ore Deposits, Southern Ozarks: Constraints Based on Geochemical Studies of Source Rocks and Their Diagenetic History
Authors: Chick Jonathan , McKim Sydney E. , Potra Adriana , Manger Walter L. , Samuelsen John R.
Published: April 2021

Southern Ozark Mississippi Valley-type ores are enriched in radiogenic Pb, with isotopic signatures suggesting that metals were supplied by two end-member components. While the less radiogenic component appears to be derived from various shale and sandstone units, the source of the more radiogenic component has not yet been identified. Analyses of cherts from the Early Ordovician Cotter Dolomite and tripolitic chert from the Early Mississippian Boone Formation contain highly radiogenic Pb, with isotopic ratios comparable to those of ores. However, most samples have lower 208Pb/204Pb and 207Pb/204Pb for a given 206Pb/204Pb compared to ores. These relationships demonstrate that the enriched Pb isotopic values of the ore array cannot be related to the host and regional lithologies sampled, suggesting that the source of high ratios may lay further afield. The slope of the linear trend defined by the Pb isotope ratios of ores corresponds to an age of about 1.19 Ga. Therefore, an alternative for the linear array is the involvement of Precambrian basement in supplying ore Pb. Rare earth element patterns show that diagenetic processes involving the action of groundwater and hydrothermal fluids affected the sampled lithologies to various degrees, with Cotter Dolomite having experienced the highest degree of alteration.
Geology and Environment: A Problem-Based Learning Study in Higher Education
Authors: Pinto Tânia , Dias António Guerner , Vasconcelos Clara
Published: April 2021

We aimed to contribute to a shift in higher education teaching and learning methods by considering problem-based learning (PBL) as an approach capable of positively affecting students from a geology and environment (GE) curricular unit. In a convenience sample from a Portuguese public university, two groups of students were defined: (1) an experimental group (n = 16), to which an intervention program (IP) based on PBL was applied, and (2) a comparison group (n = 17), subjected to the traditional teaching approach. For nine weeks, students subject to the IP faced four problem scenarios about different themes. A triangulation of methods was chosen. The study involved two phases: (1) qualitative (sustained on content analysis of driving questions raised by students, registered in a monitoring sheet) and (2) quantitative (quasi-experimental study, based on data from a prior and post-test knowledge assessment). The qualitative results point to the development of more complex cognitive-level questioning skills after increasing familiarity with PBL. The data obtained in the quantitative study, which included both a “within-subjects” and a “between-subjects” design, show higher benefits in the experimental group, documenting gains in terms of scientific knowledge when using the PBL methodology.
Large-Scale and Deep-Seated Gravitational Slope Deformations on Mars: A Review
Authors: Discenza Marco Emanuele , Esposito Carlo , Komatsu Goro , Miccadei Enrico
Published: April 2021

The availability of high-quality surface data acquired by recent Mars missions and the development of increasingly accurate methods for analysis have made it possible to identify, describe, and analyze many geological and geomorphological processes previously unknown or unstudied on Mars. Among these, the slow and large-scale slope deformational phenomena, generally known as Deep-Seated Gravitational Slope Deformations (DSGSDs), are of particular interest. Since the early 2000s, several studies were conducted in order to identify and analyze Martian large-scale gravitational processes. Similar to what happens on Earth, these phenomena apparently occur in diverse morpho-structural conditions on Mars. Nevertheless, the difficulty of directly studying geological, structural, and geomorphological characteristics of the planet makes the analysis of these phenomena particularly complex, leaving numerous questions to be answered. This paper reports a synthesis of all the known studies conducted on large-scale deformational processes on Mars to date, in order to provide a complete and exhaustive picture of the phenomena. After the synthesis of the literature studies, the specific characteristics of the phenomena are analyzed, and the remaining main open issued are described.
Site Effect Potential in Fond Parisien, in the East of Port-au-Prince, Haiti
Authors: Ulysse Sophia , Boisson Dominique , Dorival Valmy , Guerrier Kelly , Préptit Claude , Cauchie Léna , Mreyen Anne-Sophie , Havenith Hans-Balder
Published: April 2021

In the frame of a Belgo-Haitian cooperation project (PIC 2012–2016), a study of the local seismic hazard was performed in Fond Parisien, an area located on the foothills of the “Massif de la Selle”, along the easternmost portion of the Enriquillo Plantain Garden Fault (EPGF). The H/V Spectral Ratio (HVSR) technique was applied to study the resonance frequency of the target areas and the azimuth of the wave field. The amplification factors were estimated using Standard Spectral Ratios obtained from earthquakes recorded by a temporary seismic network. Using the Multichannel Analysis of Surface Waves method, the seismic properties of the shallow layers were investigated. Then, the results were compared to local Electrical Resistivity Tomography data. These results highlight, in the central part of Fond Parisien, an E-W zone of low velocities ranging from 200 m/s to 450 m/s and low resistivities between 1 Ωm and 150 Ωm, due both to tectonic folding of the rocks and to the presence of sediment filling in the eastern part. The latter is marked, in most of its sites, by resonances at one or more frequencies ranging from 0.7 Hz to 20 Hz. Infiltration and storage of brackish water in the underground layers also contribute to the low resistivity values. With the noise HVSR data, we also evidenced a significant influence of the EPGF on the main orientation of the seismic wavefield as in the vicinity of this fault, the azimuths are parallel to the orientation of the fault. Overall, the results also show greater potential for site effects in the block formed by the sedimentary basin and strong amplification of the seismic ground motion for the sites bordering the basin to the north and west. We interpret the amplification in the north and south-west as probably originating from topographic irregularities locally coupled with sediment deposits, while in the center of the western part, the site effects could be explained by the presence of folds and related weakened and softened rocks. By the integration of several geophysical methods, we could distinguish areas where it is possible to build more safely. These zones are located in the northern part and encompass Quisqueya Park and neighboring areas as well as the village “La Source” in the southern part. In the rest of Fond Parisien, i.e., in the more central and eastern parts, buildings should be erected with caution, taking into account the nearby presence of the EPGF and the influence of fine sediments on the amplification of the seismic motion.
‘Hass’ Avocado Internal Disorders under Simulated Export Conditions and Its Relationship with Flesh Mineral Content and Preharvest Variables
Authors: Escobar Johanna V. , Cortes Misael , Correa Guillermo , Rondon Tatiana , Rodríguez Pablo
Published: April 2021

The most important issues that affect consumer fruit acceptance in the ‘Hass’ avocado international market are flesh disorders. These defects can be influenced by both pre- and postharvest factors. The aim of this work was to evaluate the effect of the harvest season, storage time, mineral content, and preharvest variables on internal fruit disorders. Here, fruit was sampled from four farms in Antioquia (Colombia) at 22%, 26%, and 30% dry matter (DM) content. Samples were stored and ripened under simulated export conditions. Then, flesh bruising, flesh discoloration, body rots, vascular browning, stem end rot, and mineral content were assessed. The results showed that flesh disorders differ among farms and by harvest index and storage time. The most frequent defects found were vascular browning and stem end rot. Boron, calcium, nitrogen, manganese, magnesium, and potassium have a strong relationship with flesh disorders. Therefore, high boron and calcium contents, as well as a harvest at 26% DM, can substantially reduce avocado flesh disorders and improve internal fruit quality. Farmers that had a high flesh and soil mineral content and low rainfall and temperature produced fruits with fewer internal disorders.
Genetic Engineering of Eggplant (Solanum melongena L.): Progress, Controversy and Potential
Authors: Alam Iftekhar , Salimullah Md
Published: April 2021

Eggplant (Solanum melongena) is the third most important vegetable in Asia and of considerable importance in the Mediterranean belt. Although global eggplant production has been increasing in recent years, productivity is limited due to insects, diseases, and abiotic stresses. Genetic engineering offers new traits to eggplant, such as seedless parthenocarpic fruits, varieties adapted to extreme climatic events (i.e., sub- or supra-optimal temperatures), transcription factor regulation, overexpressing osmolytes, antimicrobial peptides, Bacillusthuringiensis (Bt) endotoxins, etc. Such traits either do not occur naturally in eggplant or are difficult to incorporate by conventional breeding. With controversies, Bt-expressing eggplant varieties resistant to eggplant fruit and shoot borers have already been adopted for commercial cultivation in Bangladesh. However, to maximize the benefits of transgenic technology, future studies should emphasize testing transgenic plants under conditions that mimic field conditions and focus on the plant’s reproductive stage. In addition, the availability of the whole genome sequence, along with an efficient in vitro regeneration system and suitable morphological features, would make the eggplant an alternative model plant in which to study different aspects of plant biology in the near future.
Water-Yield Relationship and Vegetative Growth of Wonderful Young Pomegranate Trees under Deficit Irrigation Conditions in Southeastern Italy
Authors: Tarantino Annalisa , Frabboni Laura , Disciglio Grazia
Published: April 2021

This investigation was carried out through three successive seasons (2017, 2018, and 2019) on young pomegranate trees of the Wonderful cultivar to study the effect of four different irrigation treatments (100%, 75%, 50%, and 25% of crop evapotranspiration—ETc) on vegetative growth and the water–yield relationship. The study was conducted in Foggia (Apulia region, Southern Italy), an agricultural area characterized by strong wind speeds and scarce water resources. The results showed the effects of the different irrigation levels and seasons on the vegetative growth and fruit yield characteristics. The cumulative trunk diameter, the annual shoot growth, the number of fruits per tree, and the yield decreased from the full water restitution (100% ETc) to the severe water restriction (25% ETc). The weight and the size of fruits decreased significantly with the restriction of water volumes applied to the crop. A linear relationship between water consumption and yield (R = 1.00 in 2018 and 1.21 in 2019; n = 12) was found. The water use efficiency (WUE) gave no statistical differences among irrigation treatments. The yield response factors (Ky: 1.06 in 2018 and 0.99 in 2019) showed the sensitivity of pomegranates to water deficits.
An Exaggerated Rise in Pulmonary Artery Pressure in a High-Altitude Dweller during the Cold Season
Authors: Sydykov Akylbek , Maripov Abdirashit , Kushubakova Nadira , Muratali Uulu Kubatbek , Satybaldyev Samatbek , Kulchoroeva Cholpon , Kosanovic Djuro , Sarybaev Akpay
Published: April 2021

Chronic hypoxia-induced sustained pulmonary vasoconstriction and vascular remodeling lead to mild-to-moderate elevation of pulmonary artery pressure in high-altitude residents. However, in some of them, severe pulmonary hypertension may develop. Besides hypoxia, high-altitude residents also face other environmental challenges such as low ambient temperatures. We describe a case of a 49-year-old woman of Kyrgyz ethnicity with abnormally increased pulmonary artery pressure, revealed by Doppler echocardiography. Significantly elevated pulmonary artery pressure was detected in late winter and this was not associated with right ventricular hypertrophy or right ventricular dysfunction. Repeat echocardiography performed in late summer disclosed a significant attenuation of pulmonary artery pressure elevation, with no changes in right ventricular performance parameters. This case illustrates that, in susceptible individuals, long-term cold exposure could induce an abnormal pulmonary artery pressure rise, which can be reversed during warm seasons as in our patient. In certain circumstances, however, additional factors could contribute to a sustained pulmonary artery pressure increase and the development of persistent pulmonary hypertension, which often leads to right heart failure and premature death.
Lead Levels in Wild Boar Meat Sauce (Ragù) Sold on the Italian Market
Authors: Lenti Antonio , Menozzi Alessandro , Fedrizzi Giorgio , Menotta Simonetta , Iemmi Tiziano , Galletti Giorgio , Serventi Paolo , Bertini Simone
Published: April 2021

Game meat is endowed with excellent nutritional value, but it may also be a possible source of harmful substances, such as mycotoxins and heavy metals. In particular, several studies showed that lead fragments from hunting ammunition are able to represent a residual contaminant in the meat of wild boars or deer, representing a possible source of lead absorption. Even though wild boar meat consumption in Italy is rather limited, this meat could also be present in very popular Italian recipes, such as the typical meat sauce called ragù. We evaluated the lead levels in 48 samples (three different batches for each of the 16 brands) of ready-to-eat wild boar meat ragù sold on the Italian market in food stores and online distribution with the inductively coupled plasma-mass spectrometry (ICP-MS) technique. A high variability was found in the lead levels detected in the samples, with a median lead level of 0.10 mg/kg (0.01–18.3 mg/kg) and some of the samples showing very high lead concentrations. Since no intake level of lead is considered completely safe, and maximum levels for game meat have so far not been established, a greater attention on the risks to consumers’ health related to the presence of this heavy metal in game meat is recommended.