bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome
Authors: Lei Zhi , Song Xiaorui , Zheng Xuan , Wang Yanhong , Wang Yingyuan , Wu Zhirong , Fan Tian , Dong Shijie , Cao Honghui , Zhao Yuefang , Xia Zhiyi , Gao Liujiong , Shang Qing , Mei Shiyue 
Published: May 2024

AbstractBackgroundCornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families.MethodsClinical presentations of two patients with CdLS were evaluated, and specimens from the patients and other family members were collected for Trio‐based whole‐exome sequencing. Pyrosequencing, chip‐based digital PCR, minigene splicing assay, and in silico analysis were carried out to elucidate the impact of novel variants.ResultsNovel heterozygous variants in SMC3 were identified in each proband. One harbored a novel splicing and mosaic variant (c.2535+1G>A) in SMC3. The mutated allele G>A conversion was approximately 23.1% by digital PCR, which indicated that 46.2% of peripheral blood cells had this variant. Additionally, in vitro minigene splicing analysis validated that the c.2535+1G>A variant led to an exon skipping in messenger RNA splicing. The other carried a heterozygous variant (c.435C>A), which was predicted to be pathogenic as well as significantly altered in local electrical potential. The former showed multiple abnormalities and marked clinical severity, and the latter mainly exhibited a speech developmental disorder and slightly facial anomalies.ConclusionBoth patients were clinically diagnosed with Cornelia de Lange syndrome 3 (CdLS3). The newly identified SMC3 gene variants can expand the understanding of CdLS3 and provide reliable evidence for genetic counseling to the affected family.
A solution to the ill‐conditioning of gradient‐enhanced covariance matrices for Gaussian processes
Authors: Marchildon André L. , Zingg David W. 
Published: May 2024

AbstractGaussian processes provide probabilistic surrogates for various applications including classification, uncertainty quantification, and optimization. Using a gradient‐enhanced covariance matrix can be beneficial since it provides a more accurate surrogate relative to its gradient‐free counterpart. An acute problem for Gaussian processes, particularly those that use gradients, is the ill‐conditioning of their covariance matrices. Several methods have been developed to address this problem for gradient‐enhanced Gaussian processes but they have various drawbacks such as limiting the data that can be used, imposing a minimum distance between evaluation points in the parameter space, or constraining the hyperparameters. In this paper a diagonal preconditioner is applied to the covariance matrix along with a modest nugget to ensure that the condition number of the covariance matrix is bounded, while avoiding the drawbacks listed above. The method can be applied with any twice‐differentiable kernel and when there are noisy function and gradient evaluations. Optimization results for a gradient‐enhanced Bayesian optimizer with the Gaussian kernel are compared with the use of the preconditioning method, a baseline method that constrains the hyperparameters, and a rescaling method that increases the distance between evaluation points. The Bayesian optimizer with the preconditioning method converges the optimality, that is, the norm of the gradient, an additional 5 to 9 orders of magnitude relative to when the baseline method is used and it does so in fewer iterations than with the rescaling method. The preconditioning method is available in the open source Python library GpGradPy, which can be found at https://github.com/marchildon/gpgradpy/tree/paper_precon.
Cranial injuries in ancient Egypt: Three cases of interpersonal violence in the dynastic necropolis of Qubbet el‐Hawa (Aswan, Egypt)
Authors: Guimarey Duarte R. , Rubio Salvador Á. , Alba Gómez J. M. , Alemán Aguilera I. , Bardoňová M. , Jiménez‐Serrano A. , Ismail Shehata T. , Botella López M. C. 
Published: May 2024

AbstractViolence seems to have been a constant in Egyptian history, as attested by documentary sources. The material culture also reflects this state of violence; however, anthropological findings, although present, are not as numerous as might be expected. In the present study, we analyze the injuries found in three crania (New Kingdom, 1500–1070 BCE) from the necropolis of Qubbet el‐Hawa, near the island of Elephantine (Aswan, Egypt). All three cases are adult males with several injuries caused by a sharp‐edged weapon, with no signs of survival. The macroscopic analysis of the wounds was combined with archaeological and historical data to provide an explanation of the possible weapon used and the possible scenarios (intergroup or intragroup violence) where these deaths could have occurred. These cranial injuries leave no doubt as to the intentionality and repetition in the act of causing death. These findings offer clear evidence and reliable information that contributes to the understanding of interpersonal violence and its potential causes in ancient Egypt.
A PVDF/MWCNTs/GO@MWCNTs/AgNWs bilayer structured composite film with ultra‐high EMI shielding and conductivity performance
Authors: Yang Renyuan , Tan Yanyan , Zhou Teng , Xu Yuhuan , Qin Shuhao , Zhang Daohai , Liu Shan 
Published: May 2024

AbstractElectromagnetic interference (EMI) shielding materials with easy processing, high electrical conductivity, and excellent absorption loss are urgently needed in aerospace, military stealth and portable electronic devices. In this study, a polyvinylidene fluoride/multi‐walled carbon nanotubes (PVDF/MWCNTs)‐3 wt% composite film prepared by simple solution mixing and polyethylene terephthalate (PET) nonwoven scraping method was used as the substrate, and the PVDF/MWCNTs/graphene oxide@multi‐walled carbon nanotubes (PVDF/MWCNTs/GO@MWCNTs) and PVDF/MWCNTs/GO@MWCNTs/silver nanowires (PVDF/MWCNTs/GO@MWCNTs/AgNWs) bilayer composite films were prepared by vacuum‐assisted filtration (VAF). When the amount of GO@MWCNTs was 20 mL, the conductivity of PVDF/MWCNTs/GO@MWCNTs film is 3.5 × 101 S m−1, the total EMI shielding effectiveness (EMI SET) was 15.5 dB and the EMI absorption efficiency (EMI SEA) was 10.7 dB, the specific EMI SE (SSE/T) was 539.5 dB/ dB/(cm−2 g). When the amount of AgNWs was 25 mL, the conductivity of PVDF/MWCNTs/GO@MWCNTs/AgNWs film with 0.47 mm thickness was 1.6 × 104 S m−1, the EMI SET was 69.1 dB, the EMI SEA was 61.1 dB, and the SSE/T was 2320.0 dB cm2 g−1. The results show that the absorption was played a dominant role in the EMI shielding mechanism of obtained films. The addition of GO@MWCNTs/AgNWs increases the electrical conductivity and EMI shielding performance of the film more than the addition of GO@MWCNTs. This is mainly because GO， MWCNTs and AgNWs formed a novel three‐dimensional conductive network structure inside the composite film due to their hydrogen bonding and van der Waals forces, which increases the carrier channels and promotes the interaction between the internal microcurrents and the electromagnetic waves, achieving the purpose of attenuating the electromagnetic waves. The obtained PVDF/MWCNTs/GO@MWCNTs/AgNWs film has good potential in EMI shielding in aerospace, military and electronic intelligence applications.Highlights
Well‐dispersed and highly conductive GO@MWCNTs were prepared by hydrothermal synthesis.
AgNWs with good conductivity and high aspect ratio were prepared.
PVDF‐based bilayer composite films with novel 3D conductive network were prepared.
The synergistic EMI shielding mechanism of the film is discussed.
Registration of upland cotton recombinant inbred lines MS‐4857 and MS‐4878 with resistance to root‐knot nematode and reniform nematode
Authors: Wubben Martin J. , McCarty Jack C. , Hayes Russell W. , Callahan Franklin E. , Deng Dewayne D. , Jenkins Johnie N. 
Published: May 2024

AbstractThe root‐knot nematode (RKN; Meloidogyne incognita Kofoid & White) and reniform nematode (RN; Rotylenchulus reniformis Linford & Oliveira) are serious pathogens of upland cotton (Gossypium hirsutum L.) that significantly affect yield and fiber quality annually. Here, we describe two upland cotton germplasm lines that have combined resistance to RKN and RN while maintaining good yield and fiber quality traits. Upland germplasm lines MS‐4857 (Reg. no. GP‐1147, PI 704481) and MS‐4878 (Reg. no. GP‐1148, PI 704482) are F6 recombinant inbred lines from a cross between M240 RNR (RKN resistant) and MT2468 Ren1 (moderately RN resistant). These lines are highly resistant to RKN and show ∼30% fewer RN eggs g−1 root than the MT2468 Ren1 parent due to significantly improved root system development compared with MT2468 Ren1. Yield and fiber quality traits are equivalent or superior to the parental lines. The upland‐derived RN resistance in these lines provides a valuable alternative source of resistance to cotton breeding programs, especially in combination with high‐level RKN resistance.
Developmental surveillance and screening practices in a pediatric oncology clinic: Initial progress of a quality improvement study
Authors: Pereira Lila M. , Bono Madeline H. , Hilbert Samuel 
Published: May 2024

AbstractBackgroundPediatric cancer patients’ oncology teams regularly take on a primary care role, but due to the urgent nature of cancer treatment, developmental screenings may be deprioritized. This leaves patients at risk of developmental diagnoses and referrals being delayed.AimsClarify the current developmental surveillance and screening practices of one pediatric oncology team.Materials and methodsResearchers reviewed charts for patients (n = 66) seen at a pediatric oncology clinic in a suburban academic medical center to determine engagement in developmental screening (including functioning around related areas such as speech, neurocognition, etc.) and referrals for care in these areas.ResultsDevelopmental histories were collected from all patients through admission history and physical examination (H&P), but there was no routinized follow‐up. Physicians did not conduct regular developmental screening per American Academy of Pediatrics guidelines for any patients but identified n = 3 patients with needs while the psychology team routinely surveilled all patients seen during this time (n = 41) and identified n = 18 patients as having delays.DiscussionPhysicians did not routinely screen for development needs beyond H&P and were inconsistent in developmental follow‐up/referrals. Integrated psychologists were key in generating referrals for developmental‐based care. However, many oncology patients were not seen by psychologists quickly or at all, creating a significant gap in care during a crucial developmental period.ConclusionThe case is made for further routinization of ongoing developmental screening in pediatric oncology care.
Sequencing complex plants on a budget: The development of Kalanchoë blossfeldiana as a C3, CAM comparative tool
Authors: Cowan‐Turner Daniel , Morris Bethan A. , Sandéhn Alexandra , Bernacka‐Wojcik Iwona , Stavrinidou Eleni , Powell Robyn F. , Leitch Ilia J. , Taylor Jessica , Walker Max , Nwokeocha Osita , Kapralov Maxim V. , Borland Anne M. 
Published: May 2024

Societal Impact StatementResearch efforts in plant biology have often been focused on sequenced and well‐studied ‘model’ organisms. Despite the advent of relatively inexpensive genome sequencing, most plant taxonomic groups are underrepresented, with few species that ‘represent’ the diversity of whole genera. This study describes an economical guide to sequencing a non‐model organism, which may be useful in reducing the cost of sequencing more species within genera and across plant life. This method was used to develop Kalanchoë blossfeldiana as a resource for comparing C3 and the water‐conserving mode of photosynthesis known as Crassulacean acid metabolism (CAM) within the same plant.Summary

Despite the increasing number of well‐studied plant species with well‐annotated genomes across plant life, there are few densely sampled genera with more than a couple of genome sequences representing the diversity of whole genera. Here, we develop an economic approach to full‐genome sequencing that could be used to sequence many species within a genus. We made use of the Nanopore rapid sequencing kit to assist in plant genome assembly, dramatically reducing the cost.
Here we applied this method to cost‐effectively develop genomic resources for Kalanchoë blossfeldiana, a commercially important ornamental, in which Crassulacean Acid Metabolism (CAM), a water‐conserving mode of photosynthesis can be induced. We present a physiological and biochemical characterisation of Kalanchoe blossfeldiana with its nuclear and chloroplastic genome and a comparative C3, CAM dusk transcriptome.
We apply this approach to a complex tetraploid genome, making use of a relative species for chromosomal scaffolding to reduce assembly ploidy, we provide a resource for future gene expression studies. We highlight its limitations, e.g. the need for deeper sequencing to accurately resolve genome structure and haplotypes without using a relative species for scaffolding.
The study demonstrates the merits of K. blossfeldiana as a comparative system for studying C3 and CAM within a plant and has identified substantial changes in the dusk transcriptome between young C3 and mature CAM K. blossfeldiana leaves in response to age‐induced CAM, and shows that in the absence of abiotic stress, CAM induction still involves the engagement of drought and abscisic acid (ABA) response pathways.
Telemonitoring of pediatric asthma in outpatient settings: A systematic review
Authors: Pais‐Cunha Inês , Fontoura Matias José , Almeida Ana Laura , Magalhães Manuel , Fonseca João A. , Azevedo Inês , Jácome Cristina 
Published: May 2024

AbstractTelemonitoring technologies are rapidly evolving, offering a promising solution for remote monitoring and timely management of asthma acute episodes. We aimed to describe current pediatric asthma telemonitoring technologies. A systematic review was conducted until September 2023 on Medline, Scopus, and Web of Science. We included studies of children (0–18 years) with asthma or recurrent wheezing whose respiratory condition was telemonitored outside the healthcare setting. A narrative synthesis was performed. We identified 40 telemonitoring technologies described in 40 studies. The more frequently used technologies for telemonitoring were mobile applications (n = 21) and web‐based systems (n = 14). Telemonitoring duration varied between 2 weeks and 32 months. Data collection included asthma symptoms (n = 30), patient‐reported outcome measures (PROMs) (n = 11), spirometry/peak flow readings (n = 20), medication adherence (n = 17), inhaler technique (n = 3), air quality (n = 2), and respiratory sounds (n = 2). Both parents and children were the technology target users in most studies (n = 23). Technology training was reported in 23 studies of which 3 provided ongoing support. Automatic feedback was found in 30 studies, mostly related with asthma control. HCP were involved in data management in 27 studies. Technologies were tested in samples from 4 to 327 children, with most studies including school‐aged children and/or adolescents (n = 38) and eight including preschool children. This review provides an overview of existing technologies for the outpatient telemonitoring of pediatric asthma. Specific technologies for preschool children represent a gap in the literature that needs to be specifically addressed in future research.
Recent progress in neonatal hyperoxic lung injury
Authors: Rao Tian , Zhou Yiyang , Chen Chizhang , Chen Jiayi , Zhang Jie , Lin Wei , Jia Danyun 
Published: May 2024

AbstractWith the progress in neonatal intensive care, there has been an increase in the survival rates of premature infants. However, this has also led to an increased incidence of neonatal hyperoxia lung injury and bronchopulmonary dysplasia (BPD), whose pathogenesis is believed to be influenced by various prenatal and postnatal factors, although the exact mechanisms remain unclear. Recent studies suggest that multiple mechanisms might be involved in neonatal hyperoxic lung injury and BPD, with sex also possibly playing an important role, and numerous drugs have been proposed and shown promise for improving the treatment outcomes of hyperoxic lung injury. Therefore, this paper aims to analyze and summarize sex differences in neonatal hyperoxic lung injury, potential pathogenesis and treatment progress to provide new ideas for basic and clinical research in this field.
Pickering Emulsion Edible Film Loaded With Oregano Essential Oil and Application in Muffin Preservation
Authors: Liu Zhuolin , Wang He , Yi Jiaxin , Ma Wenya , Liu Xiaofang , Chen Xiaohan , Cao Ying , Li Li 
Published: May 2024

ABSTRACTA functional edible film containing Pickering emulsion (PE) loaded with oregano essential oil (OEO) was developed. The sustained release of OEO in muffins significantly delayed muffin decay at 25°C (p < 0.05). According to the influence of oxygen permeability, antibacterial activity and mechanical properties of the active film, the optimum preparation conditions of PE were determined by orthogonal experiment. Peroxide values (POVs), total viable count (TVC) and yeast and mould count (YMC) were significantly lower compared with the blank group. On Day 6, the POV in the experimental group was 63% that of the blank group. TVC and YMC were 3.20 and 1.86 lg CFU/g on Day 9, respectively (TVC ≤ 1500 CFU/g; YMC ≤ 100 CFU/g), extending muffins shelf life to 6–7 days in practical preservation at 25°C. Thus, the edible PE loaded with OEO film provided sustained release, effectively slowing muffin quality deterioration and extending shelf life, making it a promising choice for future high‐fat food packaging.
Managing water gate operation and fish passage facilities in irrigated systems of the Nam Kam River, Thailand
Authors: Hanpongkittikul Apiradee , Cowx Ian G. , Ngoichansri Siranee , Sirimongkonthaworn Renu , Sricharoendham Boonsong , Thalerngkietleela Tiwarat , Phiwkham Paweena , Sukumasavin Naruepon , Kamonrat Wongpathom , Kensom Sornchai , Reekanong Yongyote , Pila Nakhorn 
Published: May 2024

AbstractThe migration of fishes through the Thoranit Naruemit water gate on the Nam Kam River, a tributary of the Mekong River in Thailand, was studied to understand the hydrological factors and improve the operational regime of the fish pass at the structure. Migration of fish from the Mekong River started in May, at the onset of the rainy season. During 60 days of operation, the fish pass supported the upstream migration of 83 species and ~440,000 fish, equivalent to about 11 tonnes of fish. The fish pass supported migration of a range of fish sizes between 45 and 700 mm, and most fish were larger than the size of first maturity for the species in question. The factors influencing migration into the Nam Kam included the lunar cycle, flow in the fish pass, water level in the river and flow variability. Migration tended to increase in the 3–4‐day period before or after a full moon. Discharge and water level changes associated with rising water levels in the Mekong River synchronize with the spawning season of most Mekong fish and trigger upstream migration. Many fish migrated through the pass at discharges through sluice gates between 8 and 323 m3/s and with a flow through the fish pass between 0.95 and 3.08 m/s. Restrictions to fish migration were found and recommendations for water gate and fish pass operation are provided.
Towards sustainable development in African countries: Are modern and combustible renewable energies effective?
Authors: Pata Ugur Korkut , Karlilar Pata Selin 
Published: May 2024

AbstractEnvironmental degradation and climate change problems in the African continent seriously hit country economies and human health, negatively affecting the achievement of the Sustainable Development Goals (SDGs). African countries have the potential to use economic development and renewable energy as a tool for their environmental sustainability. In this context, this study examines the effects of economic growth, modern renewable energy, and combustible renewable energy on ecological footprint (EF) in five African countries. To this end, the study uses novel regularization common correlated effects and half‐panel jackknife approaches on data from 2006 to 2020. The findings of the study show that economic progress effectively reduces the EF of African countries, but renewable energy does not contribute to ecological progress. Due to their insufficient and ineffective utilization, renewable energies are not an important tool for improving ecological systems. Therefore, African countries should prioritize their economic development as a priority goal. Based on the results, African countries experiencing economic advancement should bolster for SDGs objectives through green financial incentives.
Phospholipid‐Anchored Ligand Conjugation on Extracellular Vesicles for Enhanced Cancer Targeting
Authors: Chen Chaoxiang , Pan Xueping , Sun Mengdi , Wang Jialin , Su Xueqi , Zhang Tianyu , Chen Yulei , Wu Daren , Li Jian , Wu Shuqi , Yan Xiaomei 
Published: May 2024

AbstractExtracellular vesicles (EVs) are recognized as potential candidates for next‐generation drug delivery systems. However, the inherent cancer‐targeting efficiency is unsatisfactory, necessitating surface modification to attach cell‐binding ligands. By utilizing phospholipase D from Streptomyces in combination with maleimide‐containing primary alcohol, the authors successfully anchored ligands onto milk‐derived EVs (mEVs), overcoming the issues of ligand leakage or functional alteration seen in traditional methods. Quantitative nano‐flow cytometry demonstrated that over 90% of mEVs are effectively modified with hundreds to thousands of ligands. The resulting mEV formulations exhibited remarkable long‐term stability in conjugation proportion, ligand number, size distribution, and particle concentration, even after months of storage. It is further shown that conjugating transferrin onto mEVs significantly enhanced cellular uptake and induced pronounced cytotoxic effects when loaded with paclitaxel. Overall, this study presents a highly efficient, stable, cost‐effective, and scalable ligand conjugation approach, offering a promising strategy for targeted drug delivery of EVs.
Single‐Atom based Metal–Organic Framework Photocatalysts for Solar‐Fuel Generation
Authors: Haroon Haamid , Xiang Quanjun 
Published: May 2024

AbstractThe growing demand for fossil fuels and subsequent CO2 emissions prompted a search for alternate sources of energy and a reduction in CO2. Photocatalysis driven by solar light has been found as a potential research area to tackle both these problems. In this direction, SAC@MOF (Single‐atom loaded MOFs) photocatalysis is an emerging field and a promising technology. The unique properties of single‐atom catalysts (SACs), such as high catalytic activity and selectivity, are leveraged in these systems. Photocatalysis, focusing on the utilization of Metal–Organic Frameworks (MOFs) as platforms for creating single‐atom catalysts (SACs) characterized by metal single‐atoms (SAs) as their active sites, are noted for their unparalleled atomic efficiency, precisely defined active sites, and superior photocatalytic performance. The synergy between MOFs and SAs in photocatalytic systems is meticulously examined, highlighting how they collectively enhance photocatalytic efficiency. This review examines SAC@MOF development and applications in environmental and energy sectors, focusing on synthesis and stabilization methods for SACs on MOFs and also characterization techniques vital for understanding these catalysts. The potential of SAC@MOF in CO2 Photoreduction and Photocatalytic H2 evolution is highlighted, emphasizing its role in green energy technologies and advances in materials science and Photocatalysis.