bluuebunny/crossref_metadata_2025_split huggingface dataset:
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants
Authors: Dell’Elice Anastasia , Cini Giulia , Fornasarig Mara , Armelao Franco , Barana Daniela , Bianchi Francesca , Casalis Cavalchini Guido Claudio , Maffè Antonella , Mammi Isabella , Pedroni Monica , Percesepe Antonio , Sorrentini Italo , Tibiletti Mariagrazia , Maestro Roberta , Quaia Michele , Viel Alessandra 
Published: October 2021

AbstractBackgroundsMUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families. Ten probands carried also one or more additional MUTYH variants of unknown significance.MethodsBased on variant type and on the collected clinical and molecular data, these variants were reinterpreted by applying the ACMG/AMP rules. Moreover, supplementary analyses were carried out to investigate the presence of other variants and copy number variations in the coding and promoter regions of MUTYH, as well as other polyposis genes (APC, NTHL1, POLE, POLD1, MSH3, RNF43, and MCM9).ResultsWe reclassified 4 out of 10 MUTYH variants as pathogenic or likely pathogenic, thus supporting the diagnosis of MAP in only four cases. Two other patients belonging to the same family showed a previously undetected deletion of the APC gene promoter. No PVs were found in the other investigated genes. However, 6 out of the 18 remaining families are still interesting MAP candidates, due to the co‐presence of a class 3 MUTYH variant that could be reinterpreted in the next future.ConclusionSeveral efforts are necessary to fully elucidate the genetic etiology of suspected MAP patients, especially those with the most severe polyposis/tumor phenotype. Clinical data, tumor molecular profile, family history, and polyposis inheritance mode may guide variant interpretation and address supplementary studies.
Analysis of volumetric internal erosion in cohesionless soils: Model, experiments and simulations
Authors: Gelet Rachel , Kodieh Alaa , Marot Didier , Nguyen Ngoc‐Son 
Published: October 2021

AbstractA hydro‐mechanical continuous model that accounts for volumetric internal erosion (otherwise called suffusion) is developed based on experimental observations and data to fill the gap between laboratory testing and field applications. The model is proposed based on the mixture theory applied to a two‐phase four‐species porous medium. The erodible soil is partitioned in two phases: one solid phase and one fluid phase. The solid phase is composed of non‐erodible grains and erodible particles. The fluid phase is composed of water and fluidized particles. The modelling of internal erosion is contributed directly by mass transfer from the solid phase towards the fluid phase. Two mass transfer relationships are considered, the power‐based relationship and the energy‐based relationship, and a calibration procedure for all material parameters is proposed. Both relationships assume that the power dissipated by the flow controls the kinetics of suffusion and that detachment prevails upon self‐filtration. Both relationships predict reasonably experimental data for several experimental tests on a gap‐graded cohesionless soil tested under various hydraulic loading paths. The model has been numerically solved with the finite element method and its predictions are next compared with the experimental results of a physical model of dike. The model along with the energy‐based relationship reproduces well the final amount of eroded mass. The spatial distributions of the total water head and the final percentage of fines are also smoothly reproduced.
A possibility of polaron vortex magnet of polypyrrole prepared in virus liquid crystal
Authors: Goto Hiromasa , Komaba Kyoka , Eguchi Naoto , Toyofuku Masanori , Nomura Nobuhiko 
Published: October 2021

AbstractPolypyrrole‐biological composites were synthesized by electrochemical polymerization and chemical–electrochemical sequential polymerization as a double‐step polymerization using the fd phage of a linear‐shaped virus matrix that is safe for humans. The composites obtained exhibited fibrous and dendritic structures similar to neural networks. Electron spin resonance (ESR) revealed antiferromagnetic behavior against Pauli's paramagnetism of conductive polymers. The composites exhibited a structure similar to that of neural networks and exhibited helical antiferromagnetism‐like behavior, which is created by the charge carrier “chiralions” as helical polarons of the conducting polymer in helical form, suggesting a polaron vortex magnet.
Internal structure of a large, complex rock glacier and its significance in hydrological and dynamic behavior: A case study in the semi‐arid Andes of Argentina
Authors: Villarroel Cristian Daniel , Ortiz Diana Agostina , Forte Ana Paula , Tamburini Beliveau Guillermo , Ponce David , Imhof Armando , López Andrés 
Published: October 2021

AbstractThis paper presents an analysis of the internal structure, hydrogeology and dynamics of a large, complex, multilobate and multiroot rock glacier combining electrical resistivity tomography (ERT), hydrochemical data and differential interferometry synthetic aperture radar (DInSAR). The rock glacier consists of a series of overlapping lobes that represent different advancing stages with different degrees of conservation. The ERT surveys characterize the active layer and the upper part of the permafrost layer, the latter showing a heterogeneous geometry and electrical resistivity values ranging from 7 to 142 kΩm. Hydrochemical data argue for both the existence of different disconnected water flow pathways inside the rock glacier and the remarkable ionic concentrator effect of this landform. The horizontal displacement from October 2014 to April 2017 shows greatest magnitudes in the upper sector of both tongues, reaching speeds of up to 150 cm/year. The active frontal sector shows a displacement rate of 2–4.5 cm/year. This study contributes to knowledge of the material properties of rock glaciers, which are considered to represent important reservoirs/water resources, and their influence on the distribution of mountain permafrost, hydrology, and dynamics. Finally, to the best of our knowledge, the possible influence of the metal content of the ground on the resistivity values recorded for mountain permafrost is highlighted for the first time.
Screening of differentially expressed proteins in placentas from patients with late‐onset preeclampsia
Authors: He Andong , Wang Jingyun , Yang Xiaofeng , Liu Jia , Yang Xuesong , Wang Guang , Li Ruiman 
Published: October 2021

AbstractPurposePreeclampsia (PE) is a severe disease that endangers the safety of mothers and fetuses worldwide. In the absence of specific treatments, more studies on novel predictive and diagnostic biomarkers for PE are required.Experimental designData‐independent acquisition proteomics, with five biological replicates, was used to investigate the protein expression profiles of placental tissues from patients with PE and normal pregnant women.ResultsIn total, 52 differentially expressed proteins (DEPs) were identified, 34 of them were upregulated and 18 downregulated. Bioinformatics analyses revealed that PE was associated with multiple GO terms and KEGG pathways. Arginase‐1 (ARG1), ferritin light chain (FTL), and RNA cytidine acetyltransferase (NAT10) were identified as hub proteins, which were further validated in placental tissues and maternal plasma by western blot and ELISA.Conclusions and clinical relevanceFTL expression was significantly lower in the placental tissues and early and late pregnancy plasma of patients with PE compared to that in normal pregnant women. This study is the first to propose that FTL may be a potential predictive and diagnostic biomarker for PE; it provides a proteomics insight for understanding the pathological mechanism of this disease.
On designing efficient sequential schemes to monitor non‐normal processes
Authors: Riaz Muhammad , Khaliq Qurat‐Ul‐Ain , Abid Muhammad , Arshad Irshad Ahmad 
Published: October 2021

AbstractThe process monitoring techniques play an essential role to improve the overall performance of processes. The control chart is an essential monitoring tool used to detect changes in the process parameters. The Shewhart charts are famous for detecting larger shifts, while exponentially weighted moving average (EWMA) and cumulative sum (CUSUM) control charts are famous for detecting small‐to‐moderate shifts. The separate control schemes are required for the quick identification of the changes in the process parameters because sometimes testing is too expensive or time taking and a practitioner may not afford any kind of defects or loss. With this motivation, the dynamic feature of this article is to introduce an efficient sequential probability ratio test (SPRT) decision‐based Tukey CUSUM design. The performance of the proposal is judged by using several run lengths (RLs) performance measures such as average, median, standard deviation, and percentile RLs. Based on the comparative analysis, it is revealed that the proposed chart offers more sensitivity towards the changes in process location than its competitor's charts for several probability models. The study proposal may find applications in packaging, manufacturing, decision‐making, finance and economics modeling, image processing and automation. A case study from steel rods manufacturing is included to demonstrate the application of the proposed design.
Dual fault‐tolerant control for a class of stochastic systems with partial loss‐of‐control effectiveness
Authors: Liu Lei , Xie Guo , Qian Fucai , Guo Xiaohong , Ma Xuehui 
Published: October 2021

AbstractLoss‐of‐control effectiveness is a common fault in the engineering field. In the existing adaptive fault‐tolerant control algorithms, observers and Lyapunov functions are often used to estimate fault parameters. However, they can only ensure the convergence of fault parameters as time goes to infinity. This leads to the fact that the controller can only play a better fault‐tolerant role in the steady‐state process, and cannot guarantee the system performance in the transient state. Therefore, a dual fault‐tolerant control (DFTC) algorithm is proposed for a class of stochastic systems with partial loss‐of‐control effectiveness. The algorithm introduces a fault‐tolerant objective on the basis of the control objective. By establishing a new objective function, the controller is forced to have the characteristics of active learning to improve the transient performance of the fault system. An example simulation verifies the validity of DFTC. The simulation results show that DFTC can drive the system to the desired output, especially when partial loss‐of‐control efficiency occurs in the system, it can learn the unknown parameters actively, quickly, and accurately, which is significantly better than the conventional control based on the certainty equivalence principle and improves the reliability of the system.
Camera traps with white flash are a minimally invasive method for long‐term bat monitoring
Authors: Krivek Gabriella , Schulze Brian , Poloskei Peter Zs. , Frankowski Karina , Mathgen Xenia , Douwes Aenne , van Schaik Jaap 
Published: October 2021

AbstractCamera traps are an increasingly popular survey tool for ecological research and biodiversity conservation, but studies investigating their impact on focal individuals have been limited to only a few mammal species. In this context, echolocating bats are particularly interesting as they rely less on vision for navigation, yet show a strong negative reaction to constant illumination. At hibernacula, camera traps with white flash could offer an efficient alternative method for monitoring threatened bat species, but the potential negative impact of white flash on bat behavior is unknown. Here, we investigate the effect of camera traps emitting white flash at four hibernation sites fitted with infrared light barriers, infrared video cameras, and acoustic recorders over 16 weeks. At each site, the flash was turned off every second week. We quantified whether flash affected (1) nightly bat passes using generalized linear mixed models, (2) flight direction of entering bats using permutational multivariate analyses, and (3) latency of the first echolocation call after the camera trap trigger using randomization tests. Additionally, we quantified and corrected for the potential impact of confounding factors, such as weather and social interactions. Overall, white flash did not influence short‐ or long‐term bat activity, flight direction or echolocation behavior. A decrease in nightly bat activity was observed with an increasing proportion of hours with rain. Moreover, flight direction was affected by the presence of other bats, likely due to chasing and avoidance behavior. Our findings highlight the potential of camera traps with white flash triggered by infrared light barriers as a minimally invasive method for long‐term bat population monitoring and observation of species‐specific phenology. Such automated monitoring technologies can improve our understanding of long‐term population dynamics across a wide range of spatial‐temporal scales and taxa and consequently, contribute to data‐driven wildlife conservation and management.
Nano‐Assemblies of a Synthetic Peptide: Illuminating Aggregation Potential, Amyloidogenicity and Cytotoxicity
Authors: Samui Satyabrata , Biswas Soumi , Muniyappa K. , Naskar Jishu 
Published: October 2021

AbstractProtein misfolding and subsequent generation of amyloid fibrils are associated with a wide range of diseases e. g. Alzheimer's, Huntington's, Parkinson's, type II diabetes, cystic fibrosis, and many others. Aromatic amino acid residues of polypeptide/protein are supposed to play a critical role in formation and stabilization of amyloid fibrils. Herein, we report a synthetic peptide, ALYLV (peptide 1), corresponding to B14‐18 of insulin, that forms nanofibrillar aggregates upon self‐association in aqueous medium. Staining with congo red (CR) and thioflavin t (ThT) establish that these organized nano‐assemblies are amyloidogenic in nature. Interestingly, the structural modification of peptide 1 replacing the centrally located tyrosine residue with valine, ALVLV (peptide 2), significantly reduces the assembly propensity as well as the amyloidogenicity of peptide 2 compared to peptide 1. MTT (3‐(4,5‐dimethylthiazol‐2‐yl)‐2,5‐diphenyltetrazolium bromide) cell survival assay reveals the cytotoxicity of the aggregated peptides on HeLa cells upon 48 h of exposure. Overall, the study explores the aggregation potential, amyloidogenicity, and cytotoxicity of a hotspot of insulin and pinpoints the role of aromatic amino acid residue in amyloidosis. This outcome also illuminates the peptide nano‐assemblies for various biotechnological applications.
Synthesis of Dithiacrown Ethers and Evaluation of Their Cytotoxic Activity
Authors: Dao N. T. , Nguyen D. T. , Nguyen L. M. , Tran V. T. T. , Do T. T. , Le A. T. 
Published: October 2021

AbstractNew derivatives of thiacrown ethers were synthesized based on the domino reaction of 1,5‐bis(2‐formylphenthio)‐3‐oxapentane with ketones containing active methylene group and ammonium acetate. After 24 hours at moderate temperature, the reaction afforded new substances containing both polyether chain S(CH2)2−O−(CH2)2−S and heterocyclic piperidone. Particularly when benzyl acetoacetate was used, the three ‐ component reaction provided a final tetrahydropyridine derivative product containing enamine fragment instead of piperidone as expected. Physico‐chemical methods of analyses including IR, 1H &13C‐NMR and HRMS were used to clarify these structures. Subsequently, the cytotoxicity of five novel derivatives were evaluated on four cancer cells including HeLa (HeLa cervical cancer), Hep‐G2 (human hepatocellular carcinoma), MCF7 (human breast adenocarcinoma), Lu‐1 (human lung adenocarcinoma) and Vero cell. The result showed the potential application of these compounds in terms of biological activity.
On the relation between architectural smells and source code changes
Authors: Sas Darius , Avgeriou Paris , Pigazzini Ilaria , Arcelli Fontana Francesca 
Published: October 2021

AbstractAlthough architectural smells are one of the most studied type of architectural technical debt, their impact on maintenance effort has not been thoroughly investigated. Studying this impact would help to understand how much technical debt interest is being paid due to the existence of architecture smells and how this interest can be calculated. This work is a first attempt to address this issue by investigating the relation between architecture smells and source code changes. Specifically, we study whether thefrequencyandsizeof changes are correlated with the presence of a selected set of architectural smells. We detect architectural smells using the Arcan tool, which detects architectural smells by building a dependency graph of the system analyzed and then looking for the typical structures of the architectural smells. The findings, based on a case study of 31 open‐source Java systems, show that 87% of the analyzed commits present more changes in artifacts with at least one smell, and the likelihood of changing increases with the number of smells. Moreover, there is also evidence to confirm that change frequency increases after the introduction of a smell and that the size of changes is also larger in smelly artifacts. These findings hold true especially in Medium–Large and Large artifacts.
Mitarbeiterbefragung nach Einführung der elektronischen Patientenakte FIDUS an der Universitätsaugenklinik des Saarlandes
Authors: Maamri Amine , Fries Fabian N. , Spira-Eppig Corinna , Eppig Timo , Seitz Berthold 
Published: October 2021

Zusammenfassung
Ziel
Ziel der Studie war es, die Zufriedenheit der Mitarbeiterinnen und Mitarbeiter der Universitätsaugenklinik des Saarlandes mit der elektronischen Patientenakte FIDUS zwischen Dezember 2016 und September 2020 zu vergleichen, nachdem sie im Januar 2016 eingeführt worden war.

Methoden
Um diese Studie durchzuführen, hat das FIDUS-Team der Universitätsaugenklinik des Saarlandes einen Fragebogen erstellt. Dieser wurde im Dezember 2016 und im September 2020 an alle Beteiligten verteilt: ärztliches Personal, Pflege- und Verwaltungspersonal. Der Bogen enthielt 19 Fragen, die auf einer Skala von 0 für („stimme nicht zu“) bis 10 („stimme vollständig zu“) zu beantworten waren.

Ergebnisse
Die Anzahl der Teilnehmenden hatte von 60 (44 %) auf 89 (64 %) zwischen 2016 und 2020 deutlich zugenommen. Davon waren 23 (25,8 %) dem ärztlichen und 27 (30,3 %) dem pflegerischen Personal zuzuordnen, 12 (13,4 %) waren Verwaltungsbereich, 16 (17,9 %) in einem sonstigen Arbeitsverhältnis, und 11 (12,3 %) machten keine Angabe. Im Jahr 2020 haben 75,6 % der Befragten auf der Skala mit „10“ zugestimmt, dass die Einführung der elektronischen Patientenakte der richtige Schritt war, im Vergleich zu 36,7 % im Jahr 2016 (p < 0,001). Die Höchstbewertung, dass „die Akteneinträge mit dem Computer schneller zu schreiben sind als handschriftlich“, lag bei 38 % im Jahr 2020 vs. 25 % im Jahr 2016 (p < 0,001). Im Jahr 2020 befürworteten 61,6 % der Befragten vollständig die Einführung der papierlosen Patientenaufklärung als nächsten Schritt.

Schlussfolgerung
Die Zufriedenheit mit der elektronischen Patientenakte FIDUS hat sich im Jahr 2020 im Vergleich zu 2016 signifikant verbessert. Das gilt insbesondere für die bessere Übersichtlichkeit der Akte und die schnelleren Arbeitsabläufe. Allerdings scheint noch Optimierungsbedarf im Detail zu bestehen.
Correction of GRACE measurements of the Earth’s moment of inertia (MOI)
Authors: Ren Diandong , Leslie Lance M. , Huang Ying , Hu Aixue 
Published: October 2021

AbstractThe widely used 15-year Gravity Recovery and Climate Experiment (GRACE) data sets do not conserve global total mass. They have a spurious decreasing trend of ~ 280 Gt/year. Various regions contribute differently to the global total mass loss error, with the Greenland Ice Sheet (GrIS) generating ~ 10% of the error alone. Atmospheric parameters from reanalysis datasets drive a well-tested ice model to generate mass variation time series over the GrIS for 2002–2015. Because shorter timescale spikes of ~ 10–30 Gt in GRACE measurements are physically based, only the overall trend of ~ 30 Gt/year requires correcting. A more accurate mass loss rate estimate for 2002–2015 is ~ 120 Gt/year, considerably below previous estimates. With the water redistribution to lower latitudes and other effects from a warming climate, the nontidal Earth moment of inertia (MOI) also increases. After rectification, the GRACE measured mass redistribution shows a steady, statistically robust (passed a two-tailed t-test at p = 0.04 for dof = 15) rate of MOI increase reaching ~ 10.1 × 1027 kg m2/year, equivalent to a 10.91 μs/year increase in the length of a day, during 2002–2017.
Revision surgery for chronically discharging mastoid cavities: mastoid obliteration with canal wall reconstruction versus non-obliteration surgery
Authors: van der Toom Hylke F. E. , van der Schroeff Marc P. , Molenaar Tim L. , Metselaar Mick , van Linge Anne , Vroegop Jantien L. , Pauw Robert J. 
Published: October 2021

AbstractPurposeTo evaluate the surgical results of revision canal wall down (CWD) surgery for chronically discharging mastoid cavities and to compare the non-obliteration approach to mastoid obliteration with canal wall reconstruction.MethodsThis is a retrospective cohort study. All adult patients (≥ 18 years) who underwent revision surgery for chronically draining mastoid cavities between January 2013 and January 2020 were included. Primary outcome measures included the dry ear rate, complications and postoperative hearing.Results79 ears were included; 56 ears received revision CWD with mastoid obliteration and posterior canal wall reconstruction and 23 ears received CWD without mastoid obliteration. The dry ear rate at the most recent outpatient clinic visit (median 28.0 months postoperative) was significantly higher in the obliteration group with 96.4% compared to 73.9% for the non-obliteration group (p = .002). There were no differences in audiological outcome and incidence of complications between the two techniques.ConclusionWe show that in our study population revision CWD surgery with mastoid obliteration and posterior canal wall reconstruction is superior to revision CWD surgery without mastoid obliteration in the management of chronically discharging mastoid cavities. In the obliteration group, a dry ear was achieved in 96.4% as this was 73.9% in the non-obliteration group. We found no differences in audiological outcome and in incidence of complications between the two techniques.