bluuebunny/crossref_metadata_2025_split huggingface dataset:
Knobloch Syndrome Type 1 with a Novel Pathogenic Variant in the COL18A1 Gene: Case Report and Review of the Literature
Authors: Yaneva Staykova Slavyana , Atanasoska Maya , Balabanski Lubomir , Aleksandrova Iliyana , Deneva Daniela , Bozhinova Veneta , Toncheva Draga , Vazharova Radoslava 
Published: May 2024

AbstractKnobloch syndrome type 1 (KNO1) is a rare autosomal recessive disorder characterized by various ocular abnormalities, developmental delay, central nervous system, and urogenital tract abnormalities. KNO1 occurs phenotypically in the presence of at least two pathogenic variants of the COL18A1 gene in biallelic state, regardless of the individual's sex. We describe a novel nonsense variant in the COL18A1 gene, associated with KNO1 in a 2-year-old boy, born of a nonconsanguineous couple. This boy was referred for genetic analysis based on clinical evidence of bilateral frontal polymicrogyria of unknown etiology. Whole-exome sequencing and targeted analysis of genes associated with ataxia, polymicrogyria, and hereditary malformations of the brain was employed. One known pathogenic heterozygous splice acceptor variant (NM_001379500.1:c.929–2A > G) and one likely pathogenic novel nonsense heterozygous variant (NM_001379500.1:c.3083C > A) in the COL18A1 gene were identified. The c.929–2A > G substitution affects the splice acceptor sequence and causes impaired messenger ribonucleic acid (mRNA) maturation. The c.3083C > A variant affects the translated sequence and leads to the formation of a stop codon. Both variants are thought to result in a lack of protein product (as a result of nonsense-mediated mRNA decay) or in the production of truncated nonfunctional protein. KNO1 can go undiagnosed, thus, genetic testing can be a powerful tool for disease detection, specifically in cases in which retinal detachment and occipital encephalocele syndrome are present. Timely diagnosis not only ensures that patients are aware of the potential complications resulting from the condition such as lens subluxation, retinal detachment, and glaucoma, but can help plan appropriate disease prevention and therapy measures in affected families.
Atopic Dermatitis, Sleep, and the COVID-19 Pandemic
Authors: Roth Priscila Vernizi , Drizlionoks Renata , Antunes Rafaela Cachiolo , Crippa Ana Chrystina Souza , Morgan Mariana Aparecida Pasa , Carvalho Vânia Oliveira de 
Published: May 2024

Abstract
Objective To investigate sleep disorders among children with atopic dermatitis (AD), before and during the coronavirus disease 2019 (COVID-19) pandemic.
Materials and Methods The present longitudinal, prospective study included 26 patients with AD, and the Sleep Disturbance Scale for Children (SDSC) questionnaire and questions about sleep hygiene were used. The severity of AD was determined by the Patient-Oriented Eczema Measure (POEM). The first evaluation was conducted before the pandemic (in 2019) and the second, during the pandemic, from September to December 2020.
Results Sleep disorder was present in 17 (65.38%) patients in the 1st evaluation, and in 11 (42.30%) in the 2nd (p = 0.04). In the 1st evaluation, disorders of initiating and maintaining sleep (DIMSs) were more frequent in patients with moderate-to-severe AD (83.33%). During the pandemic, 6 patients (23.07%) reported improvement in sleep quality.
Conclusion Sleep quality was negatively influenced by the severity of AD. During the COVID-19 pandemic, there was improvement in sleep quality, despite the absence of changes in disease severity.
Relation exploration between clean and fossil energy markets when experiencing climate change uncertainties: substitutes or complements?
Authors: Chen Jin , Chen Yue , Zhou Wei 
Published: May 2024

AbstractDuring the crucial stage of the energy transition for combating extreme climate changes, it has been frequently discussed: Whether clean and fossil energies are substitutes or complements? To answer this question, we first analyze the correlations of some main clean and fossil energy markets in 2015–2022. After identifying and measuring the volatility spillovers in these energy markets, the original sequence is decomposed into three subsequences in each time-frequency to accurately capture the temporal relations in the short or long term. Furthermore, we select three periods when global climate change issues occurred frequently for the event analysis, then explore the linkages between the energy markets when experiencing climate uncertainties from different time dimensions. We find that the close interactions between clean energy markets are mainly presented in the long term. Meanwhile, even though the spillover effects between the oil market and others are not obvious in the original sequence, significant spillovers could be observed in the selected periods. Therefore, we can infer that the frequently-occurred climate change issues could be one of the reasons that trigger the volatility spillovers between the oil and other energy markets. As climate uncertainties increase, different reactions between the energy markets can be seen in the short term, while a synchronized trend is also easily observed in the long term. Hence, we conclude that these energies could be substitutes in the short term, while complements in the long run. The above analytic results could be helpful for policymakers and investors to cope with the market fluctuations that are brought by climate issues.
Pretos que voam – An Afrocentric Collective Project to Promote the Access of Peripheral Black People to Airline Crew Jobs in Brazil
Authors: Amorim Laiara , Gabrielli Cassiana , Oliveira Natália , Santos Gabriela 
Published: May 2024

Summary

This case analyses the “Pretos que Voam” (Blacks who Fly) project, which aids the training of socially vulnerable black people to become flight attendants in Brazil. Since 2020, this project has been carried out by the collective Quilombo Aéreo, which brings together black crew members to aid the elimination of racism in aviation. One of the goals of this collective is to increase the representation of black people in the airline industry. Quilombo Aéreo (
2022
) conducted a survey of air crew members, using online forms based on self-identification, and found that black people do not reach 5% of active airline crews. The project is supported by crowdfunding and social partnerships like Fundação Tide Setúbal, Fundo Baobá for racial equity Rede de Mulheres Negras, Odabá Associação de Afroempreendedorismo, Movimento Negro Unificado and others. This made it possible to provide a complete course to become a flight attendant, a basic English course, air crew licences and a passport, and mentorship. In 2021, in Porto Alegre (RS), ten black people graduated in the first class – four women among them have already been hired by airlines. In 2022, the project raised funds to provide the first Afro-focused flight school in a distance learning model in Brazil. In 2023, they are working to start the operation of the school and crowdfunded a campaign for the second class of Pretos que Voam. Facing several forms of racism in Brazilian society and its airline industry, the project also dialogues with other forms of violence common in the sector, such as sexism and
machismo
. The case study examines concrete actions to transform the pain of its pioneers into fuel for structural changes, having as a framework the Afro culture and, as a scenario, a relevant mode of tourism transportation such as air travel.

Information
This case study originated from research into empowerment and intersectionalities between racism and sexism through the Quilombo Aéreo (see Further Reading). Here we focus specifically on the Pretos que Voam project, one of the actions developed by the collective.

All authors are members of the research group
Gritus – Gender, Race and Intersectionalities in Tourism
, where this study was developed.

Information
© The Authors 2024
Reclaiming agency against the new world order: Beyond the coping mechanism frame in conspiracy theory studies
Authors: van der Tak Emma B. , Harambam Jaron 
Published: May 2024

ABSTRACT
Conspiracy theories about evil globalist elites and their totalitarian agenda are widespread in Western societies. Some scholars attribute their popularity to the complexities of modernity: conspiracy narratives offer frightening yet reassuringly simplistic explanations of world events. This approach, that we call the coping mechanism frame, regards conspiracy believers are insecure, fearful, comfort-seeking individuals. This study examines whether this frame does justice to reality. Using an ethnographic approach, we centralise the emic perspectives of a Dutch conspiracy movement. Our analysis shows that its members are critical of certain societal developments, intentional in turning critique into action and social in organising themselves accordingly. We conclude that a look beyond the coping mechanism frame reveals that conspiracy theories can be an active response to, rather than a way to cope with globalisation. Studying conspiracy theorists as a social movement is essential to recognising the often-overlooked social and collective dimension of conspiracy culture.
Effect of global shrinkage parameter of horseshoe prior in compressed sensing
Authors: Nagano Yasushi , Hukushima Koji 
Published: May 2024

Abstract
This study investigates the effect of the global shrinkage parameter τ of a horseshoe prior, one of the global–local shrinkage priors, on linear regression in sparse signal processing. Statistical mechanics methods are employed to examine the accuracy of signal estimation. The phase diagram of the success and failure of signal recovery in noiseless compressed sensing with varying τ is discussed from the viewpoint of dynamic characterization of approximate message passing (AMP) as a solving algorithm and static characterization of the free-energy landscape. It is found that there exists a parameter region where the AMP algorithm can hardly recover the true signal, even though the true signal is locally stable. The analysis of the free-energy landscape also provides important insight into the optimal choice of τ.
Enhancement of induction heating capability of bioactive SiO2–CaO–Na2O–P2O5 glass-ceramics by selective substitution with magnetite nanoparticles
Authors: Nitu  , Fopase Rushikesh , Pandey Lalit Mohan , Borah Jyoti Prasad , Srinivasan Ananthakrishnan 
Published: May 2024

Abstract
Magnetic bioactive glass-ceramics with compositions of 37SiO2–24.5CaO–24.5Na2O–6P2O5–8Fe3O4 (MGCS), 45SiO2–16.5CaO–24.5Na2O–6P2O5–8Fe3O4 (MGCC) and 45SiO2–24.5CaO–16.5Na2O–6P2O5–8Fe3O4 (MGCN) were synthesized by sol–gel route. These compositions were derived by substituting 8 wt.% magnetite (Fe3O4) nanoparticles for SiO2, CaO and Na2O, respectively, in the bioactive glass-ceramic of composition 45SiO2–24.5CaO–24.5Na2O–6P2O5. The sol–gel derived powders were heat treated at 550 °C for 1 h to ensure optimal amounts of magnetite, combeite and sodium nitrate phases. All the heat treated samples were found to be magnetic, bioactive and non-toxic to MG-63 osteoblast cells. However, the induction heating response of MGCC was better than that of MGCS and MGCN. Notably, MGCC outperformed the commercially available ferrofluid FluidMag-CT, thereby establishing itself as a superior thermoseed for magnetic hyperthermia treatment of cancer.
Integrable and superintegrable quantum mechanical systems with position dependent masses invariant with respect to one parametric Lie groups. 1. Systems with cylindric symmetry
Authors: Nikitin A G 
Published: May 2024

AbstractCylindrically symmetric quantum mechanical systems with position dependent masses admitting at least one second order integral of motion are classified. It is proved that there exist 68 such systems which are inequivalent. Among them there are thirty superintegrable and twelve maximally superintegrable ones. The arbitrary elements of the corresponding Hamiltonians (i.e.,masses and potentials) are presented explicitly.
Structural behaviour of single-deck floating roof tanks subject to seismic loading
Authors: Chiappelloni Luca , Belardi Valerio , Serraino Francesco , Trupiano Simone , Gaetani Luca , Vivio Francesco 
Published: May 2024

Abstract
During a seismic event, fluid storage tanks are subject to sloshing phenomena; their effect on the structural components of the tanks is one of the main aspects to be considered during the design. The movement in successive modal forms of the roof-fluid system determined by the earthquake can cause severe damage to both the containment shell and the floating roof. The fluid-structure interaction imposes extremely complex out-of-plane deformation fields, mainly in the presence of floating roofs with lower flexible resistance. Such deformations can cause severe structural damage and subsequent catastrophic events such as those experienced in the past in Japan and Turkey. In fact, recently recorded earthquakes in Japan and Turkey, characterized by oscillation periods between 3 and 8 sec (long-period ground motion), compatible with the natural first and second slosh frequencies of the fluid-structure system, led to conspicuous problems of instability failure with the consequent sinking of the floating roof. These events dictated a new starting point for the research into the seismic behaviour of roof-fluid-tank systems.
The oxymoron of damage assessment in dynamics by static approach
Authors: Cianetti F. , Palmieri M. , Zucca G. , Braccesi C. 
Published: May 2024

Abstract
The evaluation of fatigue damage of structural components within dynamic systems subjected to random loads is typically addressed using multibody models wherein one or more components are modeled as flexible using the modal approach. While incorporating flexible elements allows for consideration of their influence on the overall dynamic behavior of the system, certain components are intentionally designed to function as rigid bodies. Consequently, in this case the incorporation of flexible elements within multibody models merely leads to complex and time-consuming analysis. Hence, it would be more pragmatic to realize rigid body multibody models, with components characterized solely by their inertial properties, and subsequently extract the dynamic forces applied to the components to be verified. The assessment of stress can then be carried out by exploiting the principle of superposition of effects in the time domain. In this context, the objective of the present study is to develop this methodology in the frequency domain. This approach not only capitalizes on the simplicity of rigid multibody models but also harnesses the computational capabilities of the frequency-domain method for evaluating fatigue damage in components subjected to random loading conditions. This work, therefore, provides a rapid, effective, and robust method for verifying and designing rigid mechanical components integrated into dynamic systems subjected to random loads.
True stress-strain identification accounting for anisotropy of sheet metals
Authors: Mirone Giuseppe , Barbagallo Raffaele , Bua Giuseppe , Caro Daniele De , Ferrea Matteo , Tedesco Michele M. 
Published: May 2024

Abstract
Sheet metals for the automotive industry are subjected to continuous research efforts aiming at ever increasing mechanical performance. A remarkable feature of modern high strength sheet metals is their anisotropy, intrinsic in the technologic process of their production. When the effect of anisotropy on the mechanical response of a material cannot be neglected, specimens along different directions are usually tested, possibly under different stress states, to assess the flow curves and the deforming ratios for each direction and each loading mode. Such data are then used to calibrate many possible plastic anisotropy models available in the literature. In this work, the experimental procedures for determining the stress-strain curve and the anisotropic straining ratio are studied in detail, referring to representative tensile tests along the rolling direction of two anisotropic sheet metals, respectively PHS-1800 steel and 6181 aluminium alloy. Both alloys are ductile and exhibit remarkably long post-necking phases in tension, revealing that, in such cases, the standard procedures for the experimental derivation of the hardening curves and of the anisotropic strain ratios are limited to the very early phases of the material life and miss to cover the major part of the strain range up to failure. Different alternative procedures for the derivation of experimental data and for their postprocessing are considered and compared to each other, identifying a set of guidelines for achieving a good engineering accuracy up to failure in deriving both the stress-strain curves and the anisotropic strains ratios. The above analyses are made on the results of tensile tests at static, intermediate and high strain rate, confirming the generality of the identified procedure.
Suitable solutions and EU regulatory framework of electric light mobility vehicles for last-mile delivery: an overview
Authors: Raimondi A , Savino G , Lagrimino J , Biagioni G , Baldanzini N 
Published: May 2024

Abstract
Due to current environmental European regulations in terms of pollutant emissions, electric cargo cycles are receiving growing interest compared to heavy-duty vehicles as a cheaper and healthier alternative for last-mile delivery of goods in urban and suburban areas. Within the PNRR Next Generation EU program, the Sustainable Mobility Center aims to design innovative e-cargo bikes considering technical features along with rider behaviour and infrastructure characteristics. The market offers plenty of solutions, which may differ in technical and design features. Nowadays a standardized terminology, widely shared among researchers for those light mobility vehicles does not exist. Several authors employ different terms or introduce classifications based upon the vehicle type of use or even on the vehicle layout (e.g., payload position or number of wheels). Concurrently, EU regulatory framework is undergoing rapid changes and appears unclear. Certain categories of light mobility vehicles might be ruled out from the type-approval system established by the regulation EU 168/2013. For those vehicles, harmonised standards are under drafting or approval. This situation requires a considerable effort among manufacturers in the identification of the proper product directives or regulations and the associated mandatory requirements and testing procedures for the introduction of a new vehicle model in the market. Within this context, an overview of the EU regulatory framework for these light mobility vehicles is presented. A literature evaluation with a structured and coded methodology of scientific databases, company websites and commercial reports is performed, evaluating commercial and prototype solutions of e-cargo bikes from a technical and legislative perspective. Furthermore, a case study is addressed, deepening the national legislation which rules the use of e-cargo bikes in Italy. The information provided in this work may be useful among manufacturers as a starting point for the design process of these types of vehicles. Moreover, this paper lays the foundations for a widely recognized taxonomy of e-cargo bikes based upon distinctive features.
Energy enhancement in grid-connected photovoltaic generation systems using adaptive control technique
Authors: V Pushpabala , C Christober Asir Rajan 
Published: May 2024

Abstract
This research paper presents an innovative adaptive control technique for enhancing energy efficiency in grid-connected photovoltaic (PV) generation systems. By integrating an advanced high-gain DC-DC converter with adaptive and non-linear control methods, the proposed system ensures optimal power absorption from various renewable resources and maintains robust power transfer efficiency and reliability. Key results from the implementation at the Union Territory of Puducherry substation demonstrate significant improvements: the adaptive control system dynamically adjusts to changes in source voltage and load conditions, maintaining a constant output voltage with minimized steady-state error and low overshoot. The feedback controller effectively responds to fluctuations in duty cycle and output load, ensuring stable operation under varying environmental conditions. These enhancements contribute to a reliable and efficient integration of renewable energy sources into the power grid, addressing critical challenges in renewable energy technology.
Machine learning inspired models for Hall effects in non-collinear magnets
Authors: Kipp Jonathan , Lux Fabian R , Pürling Thorben , Morrison Abigail , Blügel Stefan , Pinna Daniele , Mokrousov Yuriy 
Published: May 2024

Abstract
The anomalous Hall effect has been front and center in solid state research and material science for over a century now, and the complex transport phenomena in nontrivial magnetic textures have gained an increasing amount of attention, both in theoretical and experimental studies. However, a clear path forward to capturing the influence of magnetization dynamics on anomalous Hall effect even in smallest frustrated magnets or spatially extended magnetic textures is still intensively sought after. In this work, we present an expansion of the anomalous Hall tensor into symmetrically invariant objects, encoding the magnetic configuration up to arbitrary power of spin. We show that these symmetric invariants can be utilized in conjunction with advanced regularization techniques in order to build models for the electric transport in magnetic textures which are, on one hand, complete with respect to the point group symmetry of the underlying lattice, and on the other hand, depend on a minimal number of order parameters only. Here, using a four-band tight-binding model on a honeycomb lattice, we demonstrate that the developed method can be used to address the importance and properties of higher-order contributions to transverse transport. The efficiency and breadth enabled by this method provides an ideal systematic approach to tackle the inherent complexity of response properties of noncollinear magnets, paving the way to the exploration of electric transport in intrinsically frustrated magnets as well as large-scale magnetic textures.
Mariner: explore the Hi-Cs
Authors: Davis Eric S , Parker Sarah M , Kramer Nicole E , Flores J P , Kiran Manjari , Phanstiel Douglas H 
Published: May 2024

Abstract

Motivation
3D chromatin structure plays an important role in regulating gene expression and alterations to this structure can result in developmental abnormalities and disease. While genomic approaches like Hi-C and Micro-C can provide valuable insights in 3D chromatin architecture, the resulting datasets are extremely large and difficult to manipulate.

Results
Here, we present mariner, a rapid and memory efficient tool to extract, aggregate, and plot data from Hi-C matrices within the R/Bioconductor environment. Mariner simplifies the process of querying and extracting contacts from multiple Hi-C files using a parallel and block-processing approach. Modular functions allow complete workflow customization for advanced users, yet all-in-one functions are available for running the most common types of analyses. Finally, tight integration with existing Bioconductor infrastructure enables complete analysis and visualization of Hi-C data in R.

Availability and implementation
Available on GitHub at https://github.com/EricSDavis/mariner and on Bioconductor at https://www.bioconductor.org/packages/release/bioc/html/mariner.html.