bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes
Authors: Yoldaş Çelik Merve , Köşeci Burcu , Burgaç Ezgi , Garip Sevinç , Varol Fatma Ilknur , Güngör Şükrü , Taskin Didem Gulcu , Yararbaş Kanay 
Published: January 2025

Abstract

Objectives
HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.

Case presentation
This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound HSD3B7 and ATP8B1 mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype–phenotype correlations in bile acid synthesis disorders.

Conclusions
Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis.
Bis(2-chloroethyl)sulfane revisited: (ClH4C2)2S⋯S(C2H4Cl) dimers by S⋯S interaction in the solid state
Authors: Kraus Florian , Graubner Tim , Buchner Magnus R. , Metzulat Manfred , Karttunen Antti J. 
Published: January 2025

Abstract
We synthesized bis(2-chloroethyl)sulfane, S(C2H4Cl)2, and showed its purity by various analytic methods. Its previously unknown crystal structure shows a peculiar intermolecular S⋯S interaction leading to (ClH4C2)2S⋯S(C2H4Cl)2 dimers. The S⋯S interaction could also be reproduced and investigated by quantum chemical calculations. As the C–C bonds have been observed unexpectedly short in the range from 1.505(2) to 1.509(2) Å, the chemical bonds within S(C2H4Cl)2 have also been investigated quantum chemically. Intrinsic bonding orbitals (IBOs) showed that while the C–Cl bond is slightly polarized, the C–C and C–S bonds appear purely covalent, as expected. The electron density between the respective two C atoms is decreased by the attached Cl atom so that the two C atoms move closer to each other. High-resolution low-temperature Raman spectra of solid S(C2H4Cl)2 are presented, and the bands are assigned with the aid of quantum chemical solid-state calculations.
Structural studies of (2R,3R)-(+)-bis(diphenylphosphino)butane and (R)-(+)-2,2′-bis(diphenylphosphino)-1,1′-binaphthyl
Authors: Ling Irene , Sobolev Alexandre N. , Skelton Brian W. , Raston Colin L. 
Published: January 2025

Abstract
The crystal structures of two chiral phosphanes, ((R,R)-chiraphos = (2R,3R)-(+)-2,3-bis(diphenylphosphino)butane and R-Tol-BINAP = (R)-(+)-2,2′-bis(di-p-tolylphosphino)-1,1′-binaphthyl) are unambiguously determined by X-ray crystallography and reported for the first time. The aim is to understand the structural characteristics and their chiral arrangement of the molecules. The (R,R)-chiraphos structure was solved in the orthorhombic space group P212121 while R-Tol-BINAP was solved in the triclinic space group P1. This set of compounds demonstrates attractive intramolecular phenyl ring interactions involving two terminal phenyl rings in (R,R)-chiraphos, while a terminal tolyl ring and the central binaphthyl ring occurs in R-Tol-BINAP. The crystal structure analyses also revealed that all aromatic units have close C–H⋯arylcentroid weak contacts forming continuous networks of columns and layers in (R,R)-chiraphos and R-Tol-BINAP respectively.
The hare and the hedgehog – Similar thermal expansion of argento- and aurophilic contacts for different reasons
Authors: Monkowius Uwe , Jachs née Kriechbaum Margit , Redhammer Günther , Berger Raphael F.J. 
Published: January 2025

Abstract
This study investigates the thermal expansion properties of argentophilic and aurophilic contacts in coordination complexes of the form [(
iPrNHC)2Ag]ClO4 and [(
iPrNHC)2Au]ClO4. Using X-ray crystallography distinct structural changes and phase transitions at varying temperatures are revealed. Both complexes exhibit a similar strong temperature dependence of the metallophilic distances. Analysis shows that the shallower, more anharmonic aurophilic interaction is counterbalanced by the smaller vibrational amplitude of the heavier gold atoms, resulting in comparable thermal elongation despite differing atomic dynamics.
Atomic migration and phase transformation processes in dental amalgams over 27 years, monitored by X-ray spectroscopy and X-ray powder diffraction
Authors: Hoch Constantin 
Published: January 2025

Abstract
The identification of those intermetallic phases which constitute the complex multi-phase system of dental amalgams is rather contradictory in literature. This is intriguing, as the production processes of dental amalgams are standardized since a long time. The reason for the divergence on reported amalgam phases may be due to changes within the microstructure of dental amalgams occurring over time. With a combination of X-ray powder diffraction, Rietveld refinements and X-ray spectroscopy, we were able to show the differences in chemical phases and morphologies between a freshly prepared and a 27-year old dental amalgam sample. Atomic diffusion processes within the amalgam lead to transformation of initially formed intermetallic phases and to dissolution of phases present in the prealloyed metals which react with Hg to the dental amalgam. The main amalgam phases, Ag1+x
Hg1−x
and Ag2Hg3, remain stable but change in their relative concentrations: the first increases over time, while the latter decreases. The content of Cu6Sn5 as the third important constituent phase decreases over the years and concentrates in hollow spherical particles. The fourth phase is an fcc Ag–Cu mixed crystal which is only present in the freshly prepared amalgam and dissolves over the years. The silver amalgams form a matrix in which spherical Ag–Cu particles are embedded. Cu atoms migrate from within these particles towards their surface, react to η′ bronze and are substituted by Hg atoms, whereas the Ag atoms show virtually no mobility.
Former et impliquer les parents afin de soutenir l’émergence de l’écrit de leur enfant à l’éducation préscolaire cinq ans
Authors: Boudreau Monica , Beaudoin Isabelle , Mélançon Julie , Hébert Marie-Hélène 
Published: January 2025

Cet article présente les principaux résultats ayant émergé de l’expérience de parents d’enfants de maternelle 5 ans d’un groupe expérimental (GE, n = 85) et d’un groupe témoin (GT, n = 85) qui ont participé à un programme de littératie familiale composé de quatre ateliers et de 21 trousses littéraires. L'article s'attarde aux données issues d’un questionnaire autodéclaré auquel ont répondu les parents des deux groupes (avant et après le projet) portant sur leurs pratiques de littératie. Les résultats suggèrent un effet positif du programme sur la qualité des interventions des parents du GE liées à l’environnement physique et interactif, dont celles réalisées lors de la lecture à haute voix.
Genetinių tyrimų svarba Parkinsono ligos diagnostikoje
Authors: Dakinevičiūtė Dominika , Čičelienė Jolita 
Published: January 2025

Background. Parkinson’s disease is a common neurodegenerative disorder which causes various motor, autonomic, and cognitive disorders affecting the patient’s quality of life. The etiology of the disease is multifactorial, as Parkinson’s disease is associated with both environmental and genetic factors. The interaction between these two aspects is important. Parkinson’s disease is diagnosed based on clinical criteria, and instrumental studies, such as MRI, PET, SPECT, or CT, can be used for differential diagnosis. Currently, genetic testing is not widespread in the clinical practice, but it may play a significant role in the future, not only by serving as a prognostic or diagnostic indicator, but also by helping in selecting effective, genetically oriented treatment for Parkinson’s disease.Materials and methods. A scientific literature review was conducted, and publications were gathered from PubMed (MEDLINE), ScienceDirect (Elsevier), Google Scholar, and UpToDate electronic databases using keywords and their combinations. The literature review included publications in English published from 2018 to 2023.Results. It is known that over 20 genes are associated with the manifestation of Parkinson’s disease. SNCA, VPS35, PRKN, LRRK2, PINK1, and DJ1 genes are most frequently mentioned in the literature. The penetrance of these genes varies, being either low or high, in terms of influencing the probability of disease occurrence. Mutations in the GBA gene represent the most commonly found genetic factor in Parkinson’s disease. Genetic testing for Parkinson’s disease is not commonly used in the routine clinical practice, but it should be considered on an individual basis. Currently, it is possible to test all the known genes that are associated with Parkinson’s disease, although two genes that are most commonly tested are LRRK2 and GBA. As new treatment methods for Parkinson’s disease related to gene therapy are emerging, genetic testing discussions will become increasingly relevant.Conclusions. Parkinson’s disease is associated with numerous risk factors, and the genetic factors depend on gene penetrance. Genetic testing is not standard in the current clinical practice, but it may gain significant importance in the future.
Development of a Low-Cost Reflectance Visible Spectrophotometer with Chemometrics for Curcuma xanthorrhiza Roxb. Quality Control
Authors: Heryanto Rudi , Iswantini Dyah , Rohaeti Eti , Rafi Mohamad , Rahma Novia , Hafshah Nurul , Mardiana Eni 
Published: January 2025

A simple, portable visible reflectance spectrophotometer was developed for classifying the quality of Curcuma xanthorrhiza Roxb. The device was assembled using consumer electronic components: an LED as the light source, a DVD optical layer as the diffraction grating, and a webcam as the detector, with web-based software (Spectral Workbench) as the signal processor. The spectrophotometer's performance was evaluated using standard Sudan III samples and powdered C. xanthorrhiza samples from two quality classes (A and B). Spectral data were analysed using principal component analysis (PCA) and partial least squares (PLS) regression. PCA successfully grouped Sudan III samples by concentration and classified C. xanthorrhiza by curcuminoid content. A PLS regression model was developed for quantifying Sudan III, yielding R² values of 0.9909 for both calibration and cross-validation, with RMSEs of 0.3821% and 0.4152%, respectively. The results closely matched those from a commercial spectrophotometer. A PLS-discriminant analysis (PLS-DA) classification model for C. xanthorrhiza was also developed, achieving sensitivity and specificity values of 1. Additionally, semi-quantitative parameters such as decision limit (26.15% B), detection capability (41.06% B), and unreliability range (26.15–41.06% B) were calculated. The classification model showed strong sensitivity, specificity, and detection capabilities within acceptable limits. These findings suggest that this low-cost reflectance spectrophotometer, combined with chemometric methods, holds promise as a practical tool for the quality control of raw herbal materials.
Темпы снижения рождаемости возрастают по всему миру: ловушка низкой рождаемости всё вероятнее?
Authors: Кишенин Павел Андреевич , Зинина Ангелина Игоревна , Максимова Татьяна Андреевна 
Published: January 2025

Целью исследования является анализ повышения вероятности реализации модели ловушки низкой рождаемости по сравнению с другими моделями конвергенции рождаемости. Для этого сделаны обзоры основных теоретических представлений в демографии об очень низкой рождаемости, описания типов и моделей конвергенции рождаемости, оценки некоторых последствий реализации этого прогнозного сценария.
В исследовании используется международная база данных Института измерения показателей и оценки здоровья (IHME) по странам и зависимым территориям. Нами был проведен общий анализ трендов коэффициента суммарной рождаемости за 2020-2025 гг.; сделаны расчеты скорректированного коэффициента суммарной рождаемости методом Бонгаартса-Фини за 2020-2025 гг.; проанализированы прогнозные оценки коэффициента суммарной рождаемости и итоговой рождаемости реальных поколений, выполненные ведущими международными организациями, занимающимися долгосрочным демографическим прогнозированием рождаемости (IHME, IIASA и Отдел народонаселения ООН).
Выявлено, что с начала 2010-х годов произошло резкое возрастание темпов снижения рождаемости во всех без исключения государствах мира. Часть этого снижения в демографически развитых государствах может объяснено через новую волну постарения рождаемости (tempo-effect), происходит и снижение интенсивности самого деторождения (quantum-effect). Это явным образом показывает резкое увеличение вероятности реализации ловушки низкой рождаемости.
Прогнозы рождаемости IHME, IIASA и Отдела народонаселения ООН 2023-2024 гг. отражают тенденцию все более активного использования модели ловушки низкой рождаемости при описании возможного будущего рождаемости во всех странах мира. Это дает серьезные основания, чтобы считать, что этот прогнозный сценарий может стать наиболее вероятным для реализации среди всех моделей конвергенции рождаемости.
«The Russian paradox»: high education/low human capital
Authors: Эберштадт Николас 
Published: January 2025

Some aspects of contemporary Russia’s population profile — such as its depopulation and steady surfeit of deaths over births — once seemed distinctive, but are today increasingly common in both Europe and the UN’s other «developed regions». But other aspects still remain highly distinctive. We examine one of those here: we call it Russia’s «high education/low human capital paradox». Despite levels of schooling comparable to other European countries, and to developed countries in other regions, Russian adult mortality levels are no better than «Third World», and by some measures, actually look «Fourth World», e.g. in countries with the lowest level of socio-economic development. Furthermore, despite its sizeable cadre of highly educated men and women, Russia also appears to have serious problems with «knowledge creation». Projections suggest Russia’s working-age adult mortality profile will remain unfavorable for decades to come, and that Russia’s global share of highly educated manpower is set to decline over the coming generation. There are economic and potentially geopolitical implications to such trends. We conclude by noting similarities to Russia’s high education/high adult mortality elsewhere in the former Soviet space.
Constructing a servicescape quality scale for amusement parks in Taiwan
Authors: Chang Joshua 
Published: January 2025

In response to the growing demand for enhanced visitor experiences in a more competitive environment, this study aims to develop a Servicescape Quality Scale specifically for Taiwanese amusement parks. Using a mixed-methods approach, the research begins by identifying key servicescape attributes through focus group discussions and expert interviews. We then validated these key servicescape attributes through surveys from 300 visitors across 24 leading amusement parks, ensuring the reliability and relevance of the scale. The result validates five critical dimensions that shape the servicescape: aesthetics, ambient conditions (or surrounding environment), space function, wayfinding, and cleanliness. These dimensions are crucial in influencing visitors' satisfaction and eliciting behavioral responses such as revisiting and recommending the park. These findings serve as a crucial framework for amusement parks to assess and enhance their service environments, potentially leading to significant improvements in the overall visitor experience. By focusing on these dimensions, park managers would attain focused improvements that are closer to the expectations of the visitors, thus securing significant gains within the respective service landscapes. In addition, park managers can use the scale as a diagnostic tool to pinpoint potential shortcomings. In addition, the scale allows benchmarking at a wider industry or competitive level. The hypothesized result, given the aforesaid Servicescape Quality Scale, should translate into visitors' satisfaction, repeat patronage, and long-term customer loyalty—all factors that sustain the profitability of the amusement parks within Taiwan.
Growth and yield responses of fluted pumpkin (Telfairia occidentalis hook F.) to mulching and varying seed sizes in Nsukka Enugu State Nigeria
Authors: Chidera Dimokwu Anthony , Ogechi Osadebe, Vivian , Felix Amuji, Chinedu 
Published: January 2025

This experiment studied the effects of seed weight and mulching material on the growth and productivity of fluted pumpkin (Telfairia occidentalis), an important leafy vegetable crop widely cultivated in southern Nigeria. The study aimed to optimize the conditions for improved fluted pumpkin cultivation in Nsukka area of Enugu State, Nigeria. A field experiment with a 2 x 3 factorial in randomized complete block design (RCBD) was conducted to evaluating two factors: seed weight (1-9.9g vs >10g) and mulching material (dry grass, black polyethylene sheet, and no mulch). Parameters measured included vine length, number of nodes and leaves, vine girth, survival count, and above-ground biomass at 5, 7, and 9 weeks after planting. The results showed that while mulch type did not significantly influence the measured agronomic parameters, seed size had a considerable impact. Larger seeds (>10g) consistently outperformed smaller seeds across all growth parameters, with significant differences observed in survival count and vegetative traits. The interaction effects revealed synergistic benefits when combining larger seeds with polyethylene mulch, enhancing leaf production, node development, and vine extension. Additionally, the combination of larger seeds with shredded grass mulch boosted vine girth and biomass accumulation, likely due to improved soil moisture conditions. The study recommends utilizing larger Telfairia seeds (>10g) in combination with shredded grass mulch to maximize vegetative growth development and yield. These findings provide practical recommendations to local farmers for optimizing seed quality and mulching practices in fluted pumpkin cultivation in Nsukka and regions with similar agro-ecological conditions.
ANALISIS LATIHAN DAN EVALUASI BUKU BAHASA ARAB KURIKULUM 2013 MTS KELAS VIII BERDASARKAN PRESPEKTIF RUSYDHI AHMAD THU’AIMAH
Authors: Tiandini Ajeng Euis , Purwasandy Tubagus Kesa , Basuki Danang Dwi 
Published: January 2025

This study aims to assess the relevance of exercises and evaluation in the Bahasa Arab book for the 2013 Curriculum of Grade VIII MTs, based on the perspective of Rusydhi Ahmad Thu’aimah. In this study, the researcher uses qualitative research and a descriptive content analysis method. The data collection technique was carried out through document study, where the researcher reviewed and analyzed the content of the Bahasa Arab book used in Grade VIII MTs to determine whether the elements of exercises and evaluation align with the theory proposed by Rusydhi Ahmad Thu’aimah. The results of the study show that the three elements of exercises and evaluation according to Rusydhi Ahmad Thu’aimah (1989) have been fully met in the Bahasa Arab book for the 2013 Curriculum of Grade VIII MTs. These three elements are language exercises, independent learning, and tests and evaluation. In terms of language exercises, the book provides various activities that focus on language skills, such as exercises in understanding sentence structure, vocabulary usage, and applying Arabic grammar rules in appropriate contexts. These exercises are designed to enhance students’ ability to communicate both orally and in writing. In the element of independent learning, the book provides students with opportunities to learn independently through various activities, such as individual tasks, practice questions, and reflection. The presented material encourages students to actively seek information and practice without fully relying on the teacher’s guidance, thereby fostering greater independence in learning. In the element of tests and evaluation, the book includes assessments that are appropriate to the students’ level of understanding, with formative and summative tests to measure students’ competency achievements. These evaluations are not limited to knowledge alone, but also assess the language skills acquired by students throughout the learning process. Tests are given at the end of each lesson, while evaluations are conducted every three lessons.
Biogeochemical Modeling of High-Pressure/High-Temperature Bioreactor Systems for Enhanced Microbial Risk Assessment in Underground Hydrogen Storage
Authors: Vasile N. S. , Suriano A. , Bellini R. , Bassani I. , Vizzarro A. , Coti C. , Barbieri D. , Scapolo M. , Viberti D. , Verga F. , Pirri F. , Menin B. 
Published: January 2025

Summary
Underground hydrogen storage (UHS) can be a valuable solution for efficient and environmentally friendly energy storage but it introduces complex microbial and geochemical interactions that pose unique challenges. This research leverages advanced biogeochemical modeling to accurately replicate these interactions, reproduced within a laboratory-scale bioreactor system that mimics the high-pressure and high-temperature conditions typical of many underground gas storages. Utilizing a dual-platform approach, we used COMSOL® Multiphysics and CMG-GEM, augmented by supplementary simulation tools like PHREEQC, to perform an in-depth analysis of the evolution of microbial populations and gas and liquid composition, and of the hydrochemical processes in geological formations. Our comparative study demonstrates the effective application of these platforms in modeling the complex dynamics of heat and fluid dynamics, mass transfer, and biochemical reactions. The models were meticulously validated against experimental data, displaying high accuracy in kinetic parameter fitting and the ability to replicate the observed phenomena, including microbial hydrogen consumption rates below 0.05% under specified conditions and no detectable H₂S production at high pressures. The simulation results from COMSOL® and CMG-GEM showed remarkable agreement, with differences in the respective outcomes under 3–5%, confirming the reliability and robustness of the simulations across different computational environments. The research highlights the benefits of integrating multiple simulation platforms to achieve a comprehensive and comparative understanding of biogeochemical processes at various scales. This approach not only enhances our predictive capabilities but also facilitates the transfer of biochemical and geochemical kinetics from bioreactor-scale to reservoir-scale models, to make the implementation of hydrogen storage possible. These findings underscore the potential of the modeling tools to support the assessment and management of microbial risks associated with hydrogen storage, contributing to fully assessing the storage feasibility. By providing a detailed comparison of two leading software platforms, we established an essential methodological framework for advancing the UHS technology toward safe implementation.