bluuebunny/crossref_metadata_2025_split huggingface dataset:
Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel
Authors: Liu Sha , Huang Shuang , Zhang Victor Wei , Cao Liyuan , Liu Haipeng , Wei Xiang , Luo Yuan , Li Yue , Zhou Lin , Li Fuping , Zhu Qian , Liu Hongqian 
Published: July 2024

AbstractObjectiveThis study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.MethodsUsing targeted next‐generation sequencing, a customized panel with 334 genes was performed on 2168 individuals without clinical phenotypes for expanded carrier screening purpose. Variant interpretation followed the American College of Medical Genetics and Genomics guidelines. Carrier rates were calculated for each identified variant and each gene. At‐risk couple rates were also assessed. The yield of expanded carrier screening was evaluated through calculating cumulative carrier rate.ResultsOverall, 65.87% of the individuals were found to be carriers of at least 1 disease causing variants. The overall at‐risk couple rate was 11.76%, of which the GJB2:c.109G > A related at‐risk couple rate was 5.78%. The cumulative carrier rate of 334‐panel was 65.53%. When screened genes with gene carrier rate ≥1/1000, the expanded carrier screening can cover over 90% of the cumulative carrier rate and at‐risk couples. A total of 86 genes overlapped with American College of Medical Genetics and Genomics Tier‐3 genes and were attributed to the cumulative carrier rate of 47.33%.ConclusionExpanded carrier screening using the 334‐gene panel showed high screening efficiency. A threshold of gene carrier rate ≥1/1000 is recommended for selecting carrier screening genes in the Chinese Han population. This study highlights the importance of customizing screening panels based on the ACMG Tier‐3 genes in conjunction with population‐specific carrier frequencies to improve the accuracy and effectiveness of expanded carrier screening.
Tailoring LLDPE properties with modified palygorskite fillers: A comprehensive study
Authors: da Silva Thais Ferreira , Quinteiro Eduardo , Melo Guilherme Henrique França , de Melo Morgado Guilherme Ferreira , Sundararaj Uttandaraman , Albers Ana Paula Fonseca , Passador Fabio Roberto 
Published: July 2024

AbstractLinear low‐density polyethylene (LLDPE) is a polyolefin known for its superior low‐temperature heat seal ability, low‐temperature tolerance, and bag‐tear resistance which are important features for the polymeric packaging sector. In this work, to improve the mechanical properties and expand the range of applications of LLDPE, the microfibrillar clay mineral palygorskite (PAL) was added. However, the use of PAL as a reinforcing agent for polymers depends on its purification process to extract accessory minerals such as calcite, dolomite, and quartz. In addition to this purification process, two surface modifications were used on the purified PAL (PALp) to improve interactions with LLDPE: silanization with aminosilane (PALs) and organophilization by incorporating an organic compound (PALo). The PAL were characterized according to their morphological properties using transmission electron microscopy (TEM), X‐ray diffraction (XRD), and Fourier transform infrared spectroscopy (FT‐IR). The films of LLDPE/PAL, with varying levels (1, 3, and 5 wt%) and types of PAL (raw PAL, PALp, PALs, and PALo), were prepared by an extrusion process, and films were prepared by compression molding, without preferred orientation. The films were characterized by rheological analyses, tensile tests, differential scanning calorimetry (DSC), thermogravimetric analysis (TGA), scanning electron microscopy (SEM), and water vapor permeability. Incorporating modified PAL was significant in enhancing the mechanical properties of the nanocomposites. LLDPE/PALs with the addition of 3 wt% PALs showed a 14% increase in elastic modulus (281.08 ± 8.25 MPa) compared to the nanocomposite with 3 wt% of raw PAL (243.43 ± 15.01 MPa).Highlights
The PAL is a clay mineral with a fibrous morphology and has a low cost.
The technique to purify PAL is a quick, simple, and inexpensive technique.
Comparison between of two technique surface modification of PAL.
The effectiveness of modifications of PAL was confirmed in LLDPE films.
The surface modification with silanization was more effective.
Use of dexmedetomidine during mechanical ventilation in extremely preterm and extremely low birth weight neonates receiving morphine: A single‐center retrospective study
Authors: Irving Camille , Durrmeyer Xavier , Decobert Fabrice , Dassieu Gilles , Ben Guirat Aroua , Gouyon Béatrice , Tauzin Manon 
Published: July 2024

AbstractAnalgesia and sedation are often provided during mechanical ventilation in extremely preterm neonates. Opioids and benzodiazepines are the most frequently used agents but can have adverse effects. Dexmedetomidine, an alpha‐2 agonist, might be interesting to spare opioid and benzodiazepine use. The objective of this study was to describe a cohort of mechanically ventilated extremely, preterm infants treated with morphine with or without dexmedetomidine. This was a retrospective, observational, single‐center study in the neonatal intensive care unit of Creteil. We included preterm neonates born before 28 weeks of gestation and/or weighting less than 1000 g hospitalized between July 2017 and June 2020, on mechanical ventilation for at least 72 h and who received morphine with or without dexmedetomidine as a second‐ or third‐line treatment. We described morphine and midazolam exposure, respiratory, and digestive outcomes for patients who received dexmedetomidine and those who did not. Twenty nine preterm infants received morphine and dexmedetomidine, and 44 received morphine without dexmedetomidine. Dexmedetomidine was used in patients of 25.7 [25.1–26.7] weeks, 680 [600–750] g and significantly more often in patients with vascular complications during pregnancy (p = 0.008), intrauterine growth restriction (p = 0.01) and in patients who received higher cumulative doses of morphine (p = 0.01). Morphine and midazolam doses tended to decrease after the introduction of dexmedetomidine. Dexmedetomidine was never discontinued because of side effects. In this study, dexmedetomidine, used as a second or third‐line treatment during mechanical ventilation, was associated with a decrease in morphine and midazolam doses after introduction. Dexmedetomidine was used in a specific population of extremely preterm infants, with severe respiratory disease, who required prolonged mechanical ventilation and high morphine doses. This study highlights the need for pharmacokinetic/pharmacodynamic studies in this population, followed by randomized controlled trials and studies on the long‐term effects of dexmedetomidine to determine its place in analgosedation of ventilated preterm infants.
Treating the symptoms or the disease? Analysing the UK Online Safety Act's approach to digital regulation
Authors: Nash Victoria , Felton Lisa 
Published: July 2024

AbstractIn recent years, the pace of Internet regulation around the world has quickened, with states increasingly confident that they can and should hold major platform companies to account. New laws have been developed to address the risks of digital technologies and law‐makers have drawn on familiar regulatory principles and legacy frameworks in addressing them. But the nature of the technologies and the business models supporting them bring new challenges which make it less clear that old approaches will work. To succeed, legislative frameworks must evolve and adapt. Against this backdrop we assess the UK's Online Safety Act 2023 (OSA), which was expected to provide an innovative and broad‐reaching ‘systems‐based’ approach to reducing user risks and harms, particularly in relation to child safety. We argue that although the Act does incorporate measures to regulate platform design, it fails to fully embrace this and faces some challenges in ensuring proportionality and accountability. We conclude that the development of the OSA is hampered by a legacy focus on content controls which may limit its ability to effectively improve online safety, particularly as services evolve.
Effect of PHBV‐g‐MA compatibilizer on the properties of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate)/polylactide blend/Diss fibers biocomposites
Authors: Remila Brahim , Zembouai Idris , Zaidi Lynda , Alane Arezki , Yalaoui Kattia , Kaci Mustapha , Kervoelen Antoine , Bruzaud Stéphane 
Published: July 2024

AbstractThis study investigates the morphology and properties of biocomposites based on a blend of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (PHBV) and poly (lactic acid) (PLA) 50/50 (w/w) reinforced with untreated (UNDF) and alkali‐treated (ATDF) Diss (Ampelodesmos mauritanicus) fibers at 20 wt. %. Moreover, PHBV‐g‐MA used as the compatibilizer was added at 5 wt. % to the alkali‐treated biocomposites. Morphology, and crystallinity, thermal, thermo‐mechanical, rheological and mechanical properties of PHBV/PLA biocomposites were studied. The study showed that the treated Diss fibers were uniformly dispersed in both PLA and PHBV phases. This results in a good interfacial adhesion between the components, as observed by scanning electron microscopy (SEM). Further, the results also indicated that the compatibilized biocomposite samples showed an enhancement in crystallinity degree and heat deflection temperature (HDT) passing from 48.7% to 62.4% and 119.2 to 132.9°C, respectively, in comparison with the neat blend. Similar trend is also observed with the tensile data indicating a significant increase in Young's modulus by almost 48.5% compared to PHBV/PLA matrix. This is due to better interactions between Diss fibers and PHBV/PLA matrix. The results suggest the occurrence of a synergistic effect between PHBV‐g‐MA and alkali‐treated Diss fibers in the development of materials with interesting properties and could be a potential means to expand their applications.
Photopolymerization of polyvinylethylene glycol oligomers by thiol‐ene click reaction
Authors: Yang Fan , Wang Minghang , Zhang Yong Jian 
Published: July 2024

AbstractFunctional polyvinylethylene glycols (PVEGs) with pendent vinyl groups were synthesized by Pd/B synergistic catalysts and their structures were characterized by 1H NMR and FT‐IR. The photopolymerization of the obtained PVEGs with multifunctional thiols in the presence of a photoinitiator proceeded smoothly via thiol‐ene photo‐click reaction to give a series of crosslinked materials by the variation of the molecular weight of PVEGs and a ratio of thiols and enes. The curing behavior was studied by FT‐IR and the properties of crosslinked materials were characterized by the test of gel content, swelling ratio, and water absorption. The dynamic mechanical analysis, mechanical properties, thermogravimetry, and surface properties of the crosslinked materials were investigated and the performance of coating for the crosslinked film materials was also characterized. The crosslinked film materials can be further functionalized by post‐crosslinking modification through thiol‐ene photo‐click reaction.
Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators
Authors: Yıldız Ceren Ayça , Selçuk Balcı Merve , Karabulut Şeyda , Başer Zeynep Münteha , Yüksel Kalyoncu Mine , Metin Çakar Neval , Akkitap Yiğit Müge Merve , Baysal Eda Esra , Özdemircioğlu Fulya , Uzunoğlu Burcu , Taştan Gamze , Ergenekon Pınar , Gökdemir Yasemin , Erdem Eralp Ela , Karakoç Fazilet , Ata Pınar , Karadağ Bülent 
Published: July 2024

AbstractBackgroundCystic fibrosis (CF) is an autosomal recessive disease caused by variants of CFTR gene. Over 2000 variants have been identified, and new drugs called CFTR modulators have been developed to target specific defects in the CFTR protein. However, these drugs are only suitable for patients with certain variants of CFTR, and eligibility rates vary depending on race and geographical region. This study aimed to reveal the detailed genotype and clinical characteristics of people with CF (pwCF) at our center in Turkey, a developing country, who are not eligible for CFTR modulators.MethodsA total of 445 pwCF followed up at Marmara University were reviewed retrospectively. Variants of the patients ineligible to CFTR modulators were classified based on American College of Medical Genetics guidelines, CFTR classification, the change in the encoded protein, and the variant type.ResultsThe study revealed that 139 (31.2%) patients weren't eligible for CFTR modulators. There were 60 different variants in the 276 alleles, as two were missing. The majority of patients had missense or nonsense variants, and that the most common variant was c.1545_1546del, which can be said unique to this geography.ConclusionThe study highlights the importance of detecting the variants of ineligible patients in detail to guide future approaches for more targeted and effective interventions in CF care. Testing the effectiveness of CFTR modulators for rare or newly occurring variants is crucial to ensure equal access for pwCF to these therapies from different racial backgrounds and ethnic minorities.
Enhancing practicality of deep learning for crop disease identification under field conditions: insights from model evaluation and crop‐specific approaches
Authors: Tian Qi , Zhao Gang , Yan Changqing , Yao Linjia , Qu Junjie , Yin Ling , Feng Hao , Yao Ning , Yu Qiang 
Published: July 2024

AbstractBACKGROUNDCrop diseases can lead to significant yield losses and food shortages if not promptly identified and managed by farmers. With the advancements in convolutional neural networks (CNN) and the widespread availability of smartphones, automated and accurate identification of crop diseases has become feasible. However, although previous studies have achieved high accuracy (>95%) under laboratory conditions (Lab) using mixed data sets of multiple crops, these models often falter when deployed under field conditions (Field). In this study, we aimed to evaluate disease identification accuracy under Lab, Field, and Mixed (Lab and Field) conditions using an assembled data set encompassing 14 diseases of apple (Malus × domestica Borkh.), potato (Solanum tuberosum L.), and tomato (Solanum lycopersicum L.). In addition, we investigated the impact of model architectures, parameter sizes, and crop‐specific models (CSMs) on accuracy, using DenseNets, ResNets, MobileNetV3, EfficientNet, and VGG Nets.RESULTSOur results revealed a decrease in accuracy across all models from Lab (98.22%) to Mixed (91.76%) to Field (71.55%) conditions. Interestingly, disease classification accuracy showed minimal variation across model architectures and parameter sizes: Lab (97.61–98.76%), Mixed (90.76–92.31%), and Field (68.56–73.81%). Although CSMs were found to reduce inter‐crop disease misclassifications, they also led to a slight increase in intra‐crop misclassifications.CONCLUSIONOur findings underscore the importance of enriching data representation and volumes over employing new model architectures. Furthermore, the need for more field‐specific images was highlighted. Ultimately, these insights contribute to the advancement of crop disease identification applications, facilitating their practical implementation in farmer's fields. © 2024 Society of Chemical Industry.
A guide to developing population files for physiologically‐based pharmacokinetic modeling in the Simcyp Simulator
Authors: Curry Liam , Alrubia Sarah , Bois Frederic Y. , Clayton Ruth , El‐Khateeb Eman , Johnson Trevor N. , Faisal Muhammad , Neuhoff Sibylle , Wragg Kris , Rostami‐Hodjegan Amin 
Published: July 2024

AbstractThe Simcyp Simulator is a software platform widely used in the pharmaceutical industry to conduct stochastic physiologically‐based pharmacokinetic (PBPK) modeling. This approach has the advantage of combining routinely generated in vitro data on drugs and drug products with knowledge of biology and physiology parameters to predict a priori potential pharmacokinetic changes in absorption, distribution, metabolism, and excretion for populations of interest. Combining such information with pharmacodynamic knowledge of drugs enables planning for potential dosage adjustment when clinical studies are feasible. Although the conduct of dedicated clinical studies in some patient groups (e.g., with hepatic or renal diseases) is part of the regulatory path for drug development, clinical studies for all permutations of covariates potentially affecting pharmacokinetics are impossible to perform. The role of PBPK in filling the latter gap is becoming more appreciated. This tutorial describes the different input parameters required for the creation of a virtual population giving robust predictions of likely changes in pharmacokinetics. It also highlights the considerations needed to qualify the models for such contexts of use. Two case studies showing the step‐by‐step development and application of population files for obese or morbidly obese patients and individuals with Crohn's disease are provided as the backbone of our tutorial to give some hands‐on and real‐world examples.
Improving young children's peer collaboration in early educational settings: A systematic review
Authors: Burns Samantha , Yu Esther , Brathwaite Leah , Masum Maisha , White Linda , Dhuey Elizabeth , Perlman Michal 
Published: July 2024

AbstractPeer collaboration is a foundational skill that emerges in early childhood. Children spend significant time in early educational settings, making it an important setting where young children can learn how to collaborate with peers. However, research on how to support children's collaboration effectively is limited and findings in this area have been inconsistent. This systematic review synthesises the effectiveness of interventions designed to enhance peer collaboration among children aged zero to six in early educational settings. The searches were conducted in Education Resource Information Centre (ERIC), PsycINFO, Education Resource, and Child Development and Adolescent Studies. A total of 18 studies met our inclusion criteria and were included in the systematic review. Included interventions targeted five components of peer collobaration: (1) communication skills; (2) ability to share goals; (3) collaborative products; (4) knowledge exchange; and (5) collaborative prosocial skills. The structure and implementation of the interventions were examined. Diverse strategies such as grouping children based on criteria, evaluations of collaborative products, role assignments, and adult observation and guidance were used to enhance young children's peer collaboration. The interventions primarily focused on children's direct engagement in tasks, with limited attention given to educators. The systematic review found mixed results regarding the impact of interventions on children's peer collaboration. Our findings provide researchers, policy makers and educators with empirical guidance on how to support this skill in young children.
Context and implicationsRationale for this studyEarly educational settings are in a unique position to support children's peer collaboration. This study synthesised research on how to support the development of peer collaboration in these settings.Why the new findings matterThis study identified heterogeneity in how peer collaboration is supported and measured. Findings about the effectiveness of interventions were mixed.Implications for policy makersThe heterogeneity in measures found in this study highlights the need to develop and utilise consistent measures of peer collaboration. It is important for interventions to identify the specific type of peer collaboration skills that they target and tailor interventions accordingly. Future studies should continuously aim to ensure the quality of research and the replicability and clarity of intervention procedures across contexts for integration of evidence. Finally, more research is needed to understand how to support process‐oriented collaboration outcomes in children.
Delivering sustainable development via social innovation: Cases of social entrepreneurship in South Korea and Singapore
Authors: Yoon Semee , Ho Jae‐Yun 
Published: July 2024

AbstractSocial innovation is a useful mechanism to address unmet needs in local societies and tackle wicked problems through innovative products and services. Policymakers and practitioners have increasingly become interested in effective policies and strategies for facilitating social innovation to deliver sustainable development; however, a lack of coherent analytical framework persists. To address this gap, we propose the Social Innovation System framework, by adapting the Technological Innovation Systems approach widely used in innovation management and policy. Providing a holistic and comprehensive perspective to explore complex interactions among different actors and institutions involved in social innovation, our framework allows more systematic understanding of the development of social entrepreneurship and relevant ecosystems. We employ this framework to analyze social innovation ecosystems in South Korea and Singapore. The results indicate systemic challenges to overcome owing to the collective and interactive nature of social innovation.
Biomass‐Derived Porous Carbon Materials for Electrocatalysis
Authors: Lv Yaokang , Huang Lin , Chen Chao , Cai Zhiwei , Ruhlmann Laurent 
Published: July 2024

AbstractResearch of electrocatalysts based on biomass derived porous carbon materials become one of promising strategies to boost the development of carbon cycle and energy storage technologies. As substitutes for precious metals in electrocatalysis, many biomass derived porous carbon materials exhibit excellent chemical stability, interface chemical inertness, strong structural mechanical strength and high conductivity. However, significant efforts are still needed to develop environmentally friendly, scalable and low‐cost synthetic methods to provide biomass‐derived carbonaceous materials with electrocatalytic performance that is comparable to, or even surpasses, that of existing precious metal catalysts. In this mini‐review, the main synthesis methods, electrocatalytic performances and working principle of biomass derived porous carbon materials have been summarized and discussed. The perspectives of doping strategy for these electrocatalyst candidates have been emphasized in the discussion.