bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis
Authors: Malinger G. , Prabhu A. , Maroto González A. , Brusilov M. , Kidron D. , Amster R. , Birnbaum R. , Krajden Haratz K. 
Published: April 2023

ABSTRACTObjectiveTo demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex.MethodsThis was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex‐related brain involvement, defined as the presence of one or more of the following findings: white‐matter lesions; subependymal nodules; cortical/subcortical tubers; and subependymal giant‐cell astrocytoma.ResultsWe included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27 + 2 weeks (range, 16 + 0 to 36 + 3 weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1–10). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (n = 1), exome sequencing (n = 7), autopsy (n = 4), clinical tuberous sclerosis complex in the newborn (n = 4) and a sibling diagnosed with clinical tuberous sclerosis complex (n = 1). In two cases, the disease could not be confirmed: one was lost to follow‐up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (n = 2) and/or autopsy findings (n = 2). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false‐positive case in our cohort.ConclusionsContrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first‐line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
European Lessons for the Governance of Long-Term Radioactive Waste Management
Authors: van Est Rinie , Arentsen Maarten 
Published: April 2023

AbstractBased on the detailed analyses in the previous ten chapters, this chapter empirically answers the book’s central question: What lessons do the European country studies teach us about the governance of long-term radioactive waste management? The chapter develops the answer in 17 lessons structured along the dimensions of the governance ecosystem framework introduced and explained in chapter 1 of the book.
Long-Term Radioactive Waste Management in the Netherlands: Seeking Guidance for Decision-Making
Authors: Dekker Romy , Lagendijk Vincent , Walstock Roos , van Est Rinie 
Published: April 2023

AbstractThe Netherlands pursues a ‘dual strategy’—national and international—with regard to the management of radioactive waste and spent fuel. On the national level an above-ground facility was built in the 1990s to store radioactive waste for a period of at least 100 years. By around the year 2130 a geological disposal facility is envisaged to be operational. The Netherlands also pursues an international strategy, which leaves the possibility open for collaboration with other European Union Member States to establish a shared geological disposal facility. Currently, the country’s radioactive waste policy lacks a concrete step-by-step decision-making process to implement the above dual strategy. This chapter identifies several decision-making challenges that need to be addressed, such as clarifying the principles of retrievability and reversibility, setting up criteria to reserve potential search locations for a geological disposal facility, developing a long-term, integral, participatory knowledge agenda, strengthening the knowledge landscape and developing a participatory decision-making process that enjoys public and political support.
The Sociocultural Significance of Homeownership in Brunei Darussalam
Authors: Hassan Noor Hasharina 
Published: April 2023

AbstractHouses matter to Bruneians. However, there are varying values and meanings attached to a house depending on spatial and cultural differences, which influence people’s urgency to become homeowners. Governance, consumption patterns and sociocultural institutions shape how consumers value housing and influence their desire to become homeowners. This chapter suggests that Brunei Darussalam’s housing development and culture are unique compared to societies that have undergone significant financial liberalisation such as Britain and the United States. Financial liberalisation or financialisation involve governments reducing their restrictions on financial institutions and the financial markets. Based on qualitative research that involved 210 structured interviews, six in-depth interviews and secondary data, this study identifies the variables that influence the culture of homeownership in Brunei.
Older Malay Muslim Women in Brunei Darussalam: A Non-Western Conception of Aging
Authors: Jaidin Izzati 
Published: April 2023

AbstractThis chapter examines older Muslim women from a postcolonial perspective and details the relevance of spirituality to aging in Brunei Darussalam. Ten Malay Muslim women aged 60–76 were interviewed in conjunction with photo-elicitation to gauge their everyday experiences of aging. Participant data indicate that aging among these women is largely viewed as a gift from God but that in practice embracing this gift is not always straightforward. The discussion considers the ways in which these women’s experience of aging is mediated by societal influences, such as Malay cultural and religious values, interdependence of familial organisation through expectations of filial piety, social rapport and networks. Recounting their experiences provides a nuanced appreciation of aging among Malay Muslim women that adds further texture to our understanding of aging in non-Western contexts.
Holographic duals of the $$ \mathcal{N} $$ = 1* gauge theory
Authors: Armas Jay , Batzios Giorgos , van der Schaar Jan Pieter 
Published: April 2023

Abstract
We use the long-wavelength effective theory of black branes (blackfold approach) to perturbatively construct holographic duals of the vacua of the $$ \mathcal{N} $$
N
= 1* supersymmetric gauge theory. Employing the mechanism of Polchinski and Strassler, we consider wrapped black five-brane probes with D3-brane charge moving in the perturbative supergravity back-grounds corresponding to the high- and low-temperature phases of the gauge theory. Our approach recovers the results for the brane potentials and equilibrium configurations known in the literature in the extremal limit, while away from extremality we find metastable black D3-NS5 configurations with horizon topology ℝ3 × 𝕊2 × 𝕊3 in certain regimes of parameter space, which cloak potential brane singularities. We uncover novel features of the phase diagram of the $$ \mathcal{N} $$
N
= 1* gauge theory in different ensembles and provide further evidence for the appearance of metastable states in holographic backgrounds dual to confining gauge theories.
Nonlocal doubly nonlinear diffusion problems with nonlinear boundary conditions
Authors: Solera Marcos , Toledo Julián 
Published: April 2023

AbstractWe study the existence and uniqueness of mild and strong solutions of nonlocal nonlinear diffusion problems ofp-Laplacian type with nonlinear boundary conditions posed in metric random walk spaces. These spaces include, among others, weighted discrete graphs and$$\mathbb {R}^N$$RNwith a random walk induced by a nonsingular kernel. We also study the case of nonlinear dynamical boundary conditions. The generality of the nonlinearities considered allows us to cover the nonlocal counterparts of a large scope of local diffusion problems like, for example, Stefan problems, Hele–Shaw problems, diffusion in porous media problems and obstacle problems. Nonlinear semigroup theory is the basis for this study.
Enhancing the interfacial bonding strength between 3D-printed aluminium substrates and carbon fibre–reinforced polymers
Authors: Abdoli Hamed , Chan Yuk Lun , Diegel Olaf , Allen Tom , Battley Mark , Bickerton Simon 
Published: April 2023

Abstract
Carbon fibre–reinforced polymers (CFRP) are increasingly utilised as materials within hybrid components in combination with plastics and metals. Although hybrid components provide a combination of advantages from the constituent materials, there are some challenges for the manufacture of high-quality hybrid components, including weak interface bonding between the constituent materials. This research focuses on utilising additive manufacturing (AM) technology to control an aluminium substrate's surface features to enhance interfacial bonding with a CFRP laminate. For this purpose, different surface structures were designed and manufactured using laser powder bed fusion (LPBF) technology to understand the influence of surface geometry and roughness on the interface. A lattice structure with a unit cell size of 3 × 3 × 1.5 mm was manufactured to create a substrate surface with porosity. A second substrate surface was designed with the same lattice structure; however, the voids were filled to present an equivalent surface topology (EST), excluding porosity. This comparison provides an understanding of the influence of the porosity of the substrate surface on interfacial bonding strength. Interfacial bonding between the aluminium substrates and a CFRP laminate was assessed using short beam strength (SBS) and flatwise tensile tests. The results from the SBS testing indicated a 3D-printed substrate with random surface roughness increased the interlaminar shear strength of the hybrid component by almost 200% compared to a hybrid laminate with non-printed substrate. The results from flatwise tensile tests illustrated that the out-of-plane bonding strength can also be improved significantly (almost 100%).
Commissural misalignment independently predicts leaflet thrombosis after transcatheter aortic valve implantation
Authors: Jung Susanne , Ammon Fabian , Smolka Silvia , Moshage Maximilian , Marwan Mohamed , Achenbach Stephan 
Published: April 2023

Abstract
Aims
Transcatheter aortic valve implantation (TAVI) has become a minimally invasive alternative to surgical aortic valve replacement. Hypo-attenuated leaflet thickening (HALT)—a marker of subclinical leaflet thrombosis commonly detected by cardiac computed tomography (CT) after TAVI—may influence valve durability and function. The purpose of this study was to compare commissural alignment of the native and prosthetic aortic valves in cardiac CT in subjects with and without HALT and thereby identify commissural misalignment as potential predictor for leaflet thrombosis after TAVI.

Methods and results
In 170 subjects, 85 with and 85 without HALT in post-TAVI CT, commissural orientation of the prosthesis was determined comparing native and prosthetic aortic valve orientation in cardiac CT by measuring the commissural angle relative to the right coronary ostium in the aortic valve plane. For the prosthetic valve, any deviation ≤ 15° compared to the native valve was classified as “aligned”; 16–30° as “mild”, 31–45° as “moderate” and ≥ 45° as “severe” misalignment.
Among subjects with HALT, median angular deviation was higher (36°, IQR 31°) than in the control group (29°, IQR 29°, p = 0.042). “Severe” misalignment was more frequent in subjects who developed HALT (n = 31, 37%) compared to the control group (n = 17, 20%, p = 0.013). In logistic regression analysis, more severe deviation (p = 0.015, OR = 1.02 per 1° deviation) and “severe” misalignment (p = 0.018, OR = 2.2) represented independent predictors for the occurrence of HALT after TAVI.

Conclusion
Subclinical leaflet thrombosis after TAVI is associated with commissural misalignment. Potential clinical advantages of obtaining commissural alignment remain to be systematically assessed.

Graphical abstract

Association of HALT with commissural misalignment after TAVI. HALT hypo-attenuated leaflet thickening, IQR interquartile range, TAVI transfemoral aortic valve replacement
DNA methylation signatures for chromatinopathies: current challenges and future applications
Authors: Awamleh Zain , Goodman Sarah , Choufani Sanaa , Weksberg Rosanna 
Published: April 2023

AbstractPathogenic variants in genes that encode epigenetic regulators are the cause for more than 100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA methylation signatures, syndrome-specific patterns of DNA methylation alterations, serve as both a research avenue for elucidating disease pathophysiology and a clinical diagnostic tool. The latter is well established, especially for the classification of variants of uncertain significance (VUS). In this perspective, we describe the seminal DNA methylation signature research in chromatinopathies; the complex relationships between genotype, phenotype and DNA methylation, and the future applications of DNA methylation signatures.
Genetic control of generative cell shape by DUO1 in Arabidopsis
Authors: Rauf Abdur , Khatab Hoda , Borg Michael , Twell David 
Published: April 2023

Abstract
Key message
The main features of generative cell morphogenesis, formation of a cytoplasmic projection and elongation of the GC body, operate through independent genetic pathways.

Abstract
Male gametogenesis in developing angiosperm pollen involves distinctive changes in cell morphogenesis. Re-shaping and elongation of the generative cell (GC) are linked to the formation of a GC cytoplasmic projection connected to the vegetative cell nucleus. Although genetic control of GC morphogenesis is unknown, we suspected the involvement of the germline-specific MYB transcription factor DUO POLLEN1 (DUO1). We used light and fluorescence microscopy to examine male germline development in pollen of wild-type Arabidopsis and in four allelic duo1 mutants expressing introduced cell markers. Our analysis shows that the undivided GC in duo1 pollen forms a cytoplasmic projection, but the cell body fails to elongate. In contrast GCs of cyclin-dependent kinase function mutants, which fail to divide like duo1 mutants, achieve normal morphogenesis. We conclude that DUO1 has an essential role in the elongation of the GC, but DUO1-independent pathways control the development of the GC cytoplasmic projection. The two main features of GC morphogenesis therefore operate through independently regulated genetic pathways.
The terpene synthase genes of Melaleuca alternifolia (tea tree) and comparative gene family analysis among Myrtaceae essential oil crops
Authors: Voelker Julia , Mauleon Ramil , Shepherd Mervyn 
Published: April 2023

AbstractTerpene synthases (TPS) are responsible for the terminal biosynthetic step of terpenoid production. They are encoded by a highly diverse gene family believed to evolve by tandem duplication in response to adaptive pressures. Taxa in the Myrtaceae family are renowned for their diversity of terpenoid-rich essential oils, and among them, the tribe Eucalypteae has the largest TPS gene family found in any plant (> 100 TPS). In this study, comparative analysis of Melaleuca alternifolia (tea tree), from the related tribe Melaleuceae, revealed some Myrtaceae have smaller TPS families, as a total of 58 putatively functional full-length TPS genes, and 21 pseudogenes were identified by manual annotation of a newly released long-read assembly of the genome. The TPS-a and TPS-b2 subfamilies that synthesise secondary compounds often mediating plant-environment interactions were more diminutive than those in eucalypts, probably reflecting key differences in the evolutionary histories of the two lineages. Of the putatively functional TPS-b1, 13 clustered into a region of around 400 kb on one scaffold. The organisation of these TPS suggested that tandem duplication was instrumental in the evolution and diversity of terpene chemistry in Melaleuca. Four TPS-b1 likely to catalyse the synthesis of the three monoterpenoid components that are used to classify tea tree chemotypes were encoded within a single small region of 87 kb in the larger cluster of TPS-b1, raising the possibility that coregulation and linkage may lead to their behaviour as a single locus, providing an explanation for the categorical inheritance of complex multiple-component chemotypes in the taxon.
Drop-out and ineffective treatment in youth with severe and enduring mental health problems: a systematic review
Authors: de Soet R. , Vermeiren R. R. J. M. , Bansema C. H. , van Ewijk H. , Nijland L. , Nooteboom L. A. 
Published: April 2023

AbstractYouth with severe and enduring mental health problems (SEMHP) tend to drop out of treatment or insufficiently profit from treatment in child and adolescent psychiatry (CAP). Knowledge about factors related to treatment failure in this group is scarce. Therefore, the aim of this systematic review was to thematically explore factors associated with dropout and ineffective treatment among youth with SEMHP. After including 36 studies, a descriptive thematic analysis was conducted. Themes were divided into three main categories: client, treatment, and organizational factors. The strongest evidence was found for the association between treatment failure and the following subthemes: type of treatment, engagement, transparency and communication, goodness of fit and, perspective of practitioner. However, most other themes showed limited evidence and little research has been done on organizational factors. To prevent treatment failure, attention should be paid to a good match between youth and both the treatment and the practitioner. Practitioners need to be aware of their own perceptions of youth’s perspectives, and transparent communication with youth contributes to regaining their trust.
The role of effort in understanding academic achievements: empirical evidence from China
Authors: Jin Xin 
Published: April 2023

AbstractFrom the perspective of comparative education, it has often been stressed that Chinese families hold high expectations on school achievement and believe in the pay-off of effort. However, the literature on the relationship between effort and academic achievement is limited. Individual effort is not widely considered a significant cause of educational disparities, which often is mainly attributed to structural and contextual factors, such as family socioeconomic status (SES). Using the China Education Panel Survey (CEPS 2013, 2014), this study examined the role of effort in affecting educational outcomes and investigated the interplay between effort and family socioeconomic status. The results showed that effort has a positive impact on academic performance, though to a lesser degree than family SES. The study also discovered that low-SES students tend to exert more effort than high-SES students and that the effect of effort is greater for low-SES students. These findings underlined the importance of individual effort for academic success, particularly for low-SES students, and suggested policies that aim at enhancing motivation and engagement.
Temporal changes in soil chemical compositions in acidified mountain forest soils of Czech Republic
Authors: Thai Saven , Pavlů Lenka , Tejnecký Václav , Chovancová Sabina , Hin Lyhour , Thet Bunthorn , Němeček Karel , Drábek Ondřej 
Published: April 2023

AbstractThe study aimed to investigate the temporal changes of pH, sorption complex, and structure of soil organic matter through the forest soil profile under beech and spruce forests located in Jizera mountains (Czech Republic) and affected by natural and anthropogenic acidification. Soil samples were collected in four different years (2008, 2013, 2015, and 2020) in each horizon: fermented horizons (F), humified horizons (H), organo-mineral horizons (A), and subsurface mineral horizons (B) (cambic or spodic). The cation exchange capacity (CEC), base saturation (BS), exchangeable element contents, pH, and soil organic carbon content (SOC) were determined. The infrared soil spectra were used to calculate indices of potential wettability, aromaticity, and decomposition. Our results showed that most nutrients and aliphatic compounds were retained in the uppermost soil layers. The aromaticity of organic matter increased with depth, while polysaccharides, regarding the decomposition compound, disappeared through the soil horizons. In a long-term observation, SOC content had constantly increased under beech, while spruce remained stable in the organic horizons. Exchangeable element contents increased in each horizon, except for Al and Fe; their content quickly decreased in F horizons and slowly decreased in H horizon under both forest tree species, while the deeper horizons remained constant, but increased in A horizon under spruce. Continuously increasing base cations concentrations in sorption complex of both forest tree species during the study period revealed the effect of forest stand types on acid deposition reduction and mitigation. The temporal changes in CEC, BS, SOC, and soil wettability are more intensive in beech than in spruce forest floor.
InfoFaunaFVG: a novel progressive web application for wildlife surveillance
Authors: Tomè P. , Pesaro S. , Orioles M. , Pascotto E. , Cadamuro A. , Galeotti M. 
Published: April 2023

Abstract
The Department of Agricultural, Food, Environmental and Animal Sciences (DI4A) at the University of Udine, in collaboration with Friuli Venezia Giulia regional authorities, within northeastern Italy, set up a wildlife monitoring and surveillance regional network, named InfoFaunaFVG. Here we describe the development and application of this data repository system based on a novel progressive web application, and report the data gathered in the first two and a half years of its use. InfoFaunaFVG is made of a Web Database and an integrated WebGIS system. In particular, the following open source softwares are used: Apache HTTP Server, Oracle MySQL, Symfony, Apache Tomcat, GeoServer, OpenLayers. The web app can be accessed from any web browser or by installing the progressive web application in the desktop or mobile devices. In short, operating from November 2019, InfoFaunaFVG currently (April 2022) contains a total of 40,175 records, from 300 different users, from 16 institutions. Among all species recorded, mammals were 40% (16,018) of the total, whereas avian species represented 59% (23,741), and others (reptiles and amphibians) 1% (416), respectively. Two hundred twenty-six different species (175 avian and 51 mammals) were recorded. Details about causes of death and live animal rescue were reported. To date, InfoFaunaFVG has proven to be a successful wildlife data repository system providing high quality consistent, accurate and traceable data. These had a considerable impact on regional wildlife governance. In the authors’ knowledge, InfoFaunaFVG is the first example described in literature of such a progressive web application, coordinated on an institutional level, and not based on voluntary-citizen observations. InfoFaunaFVG has the potential to become the largest wildlife monitoring and surveillance data repository system on a national level.