bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency
Authors: Lin Yiming , Zheng Zhenzhu , Lin Weihua , Peng Weilin 
Published: September 2024

ABSTRACTBackgroundNewborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test.MethodsBetween March and December 2020, 60,070 newborns were screened for inherited metabolic disorders. Newborns with free carnitine (C0) levels below 8.5 μmol/L were selected for second‐tier genetic testing.ResultsIn total, 130 (0.22%) newborns with low C0 levels underwent second‐tier genetic testing, 87 (66.92%) had positive genetic testing results, and 30 (23.08%) carried pathogenic variants of the SLC22A5 gene. Six newborns were diagnosed with PCD. The incidence of PCD was approximately 1 in 1:10,012 newborns. The PPV reached 20% after combining with second‐tier NGS. Of the eight variants identified in patients with PCD, the three most common variants were c.760C>T (p.Arg254*), c.51C>G (p.Phe17Leu), and c.1400C>G (p.Ser467Cys). The C0 levels of patients with PCD were significantly lower than those of PCD carriers (p = 0.0026) and PCD‐negative individuals (p = 0.0005).ConclusionsOur results showed that the PPV reached 20% after combining with second‐tier NGS. The MS/MS‐based NBS and second‐tier NGS combination can effectively reduce the false‐positive rate and detect PCD in patients.
Scientists' perspectives on ethical issues in research with emerging portable neuroimaging technology: The need for guidance on ethical, legal, and societal implications (ELSI)
Authors: Daniels Frances , Torres Efraín , Lawrenz Frances , Wolf Susan M. , Shen Francis X. 
Published: September 2024

AbstractDeployment of new, more portable, and less costly neuroimaging technologies such as portable magnetoencephalography, electroencephalography, positron emission tomography, functional near‐infrared spectroscopy, high‐density diffuse optical tomography, and magnetic resonance imaging is advancing rapidly. Given this trajectory toward increasing use of neuroimaging outside the hospital, we sought to identify ethical, legal, and societal implications (ELSI) of these new technologies by understanding the perspectives of those scientists and engineers developing and implementing portable neuroimaging technologies in the United States, Europe, and Asia. Based on a literature review, we identified and contacted 19 potential interviewees and then conducted 11 semi‐structured interviews in English by Zoom. Analysis of the interviews revealed key themes and ELSI issues. Developers reported that without proper ELSI guidance, portable and accessible neuroimaging technology could be misused, fail to comply with applicable regulation and policy, and ultimately fall short in its mission to provide neuroimaging for the world. Our interviews suggested that ELSI guidance should address differences between imaging modalities because they vary in capability, limitations, and likelihood of generating incidental findings.
An Improved Test Method for Assaying the Inhibition of Bioflavonoids on Xanthine Oxidase Activity in vitro
Authors: Yao Yuanyong , Wu Tao , Zhang Meng , Fu Daihua , Yang Hai , Chen Shixue 
Published: September 2024

AbstractThe difference on inhibitory effects of bioflavonoids inhibiting XOD activity assayed by varying test methods cause of us to be further in consideration. The reported test method creating a micro‐environment surrounding XOD in the absence of ⋅O2−, which is seemly different from the assay in vivo. So, the vitro test method for assaying XOD activity is necessary to be improved for selection of potential inhibitors in the presence of ⋅O2−. The inhibitory results demonstrated that bioflavonoids of MY, DMY, QUE and LUT are capable to be on effective IC50 values, but others are not. As well, their resulting inhibitions determined by the improved test method are much less than that reported in the literature, indicating that their chemical affinities with XOD become weaker. Moreover, DMY assayed on the inhibitions of XOD in the improved test method performs to be a better inhibitor, as compared to the assay of the reported test methods. Abasing on the transformation of DMY into MY in the presence of ⋅O2−, the good inhibition of DMY on XOD activity can be explained by the synergistic effect of MY.
Medicinal Perspective of 2,4‐Thiazolidinediones Derivatives: An Insight into Recent Advancements
Authors: Gupta Sneha , Jha Sumeet , Rani Supriya , Arora Pinky , Kumar Shubham 
Published: September 2024

Abstract2,4‐Thiazolidinedione derivatives represent nitrogen‐containing heterocyclic compounds utilized in type 2 diabetes mellitus management. Recent advances in medicinal chemistry have unveiled diverse therapeutic potentials and structural modifications of these derivatives. This review delves into novel TZD derivatives, encompassing their synthesis, structure‐activity relationships, and pharmacokinetic profiles. Various therapeutic potentials of TZDs are explored, including anticancer, antimicrobial, anti‐inflammatory, antioxidant, anticonvulsant, antihyperlipidemic, anticorrosive, and antitubercular activities. Additionally, it addresses mitigating side effects associated with marketed TZD derivatives such as weight gain, oedema, fractures, and congestive heart failure in type 2 diabetes mellitus management. The review elaborates on in vivo, in vitro, and ex vivo studies supporting different biological activities, alongside predicting ADME and drug‐likeness properties of TZDs. Computational studies are also integrated to elucidate binding modes and affinities of novel TZD derivatives. Furthermore, a plethora of novel TZD derivatives with varied and enhanced therapeutic potentials are presented, warranting further evaluation of their biological activities.
Mental Resilience in Crisis: Examining the Mental Health and Well‐Being of Iranian Athletes During the COVID‐19 Pandemic
Authors: Dinani Maryam Mokhtari , Afshar Jahanshahi Asghar , Madavani Abbas Nazarian , Mendoza Milagros Isabel Rivas , Soltani Sadegh 
Published: September 2024

ABSTRACTThe pervasive impact of COVID‐19 and economic sanctions has significantly influenced the well‐being of Iranian athletes, leaving lasting imprints on both their physical and mental health. During this challenging time, this comprehensive study delves into the nuanced disparities among various cohorts of Iranian athletes across multiple dimensions, including insomnia severity, psychological distress, anxiety, depression, intrusive thoughts, life satisfaction, and hope. Stratifying the participants based on their professionalism level, age, education, sports activity engagement, and COVID‐19 infection status, our survey‐based findings from a cohort of 280 athletes reveal compelling insights: Male athletes exhibit higher levels of distress, anxiety, and depression compared to their female counterparts. Professional athletes manifest elevated psychological distress, anxiety, and depression in contrast to semi‐professional and amateur athletes. Insomnia severity is more prevalent among professional athletes, concurrently accompanied by higher levels of hope within this group. Young athletes and those with higher educational attainment report increased intrusive thoughts. Local and national athletes demonstrate higher levels of life satisfaction and hope compared to their international counterparts. Athletes not infected with Coronavirus experience heightened psychological distress compared to their COVID‐19‐infected counterparts. This nuanced exploration underscores the intricate interplay between various factors and their profound implications for the mental well‐being of Iranian athletes in the face of global health challenges and economic constraints. By recognizing the vulnerabilities exposed during the pandemic and sanctions, policymakers can work toward a more resilient and robust sports sector, ensuring that the mental health and psychosocial well‐being of athletes remain at the forefront of policy considerations.
Enhancing tensile properties of polymer‐based triply periodic minimal surface metamaterial structures: Investigating the impact of post‐curing time and layer thickness via response surface methodology
Authors: Pehlivan Fatih 
Published: September 2024

AbstractThis research aims to explore the influence of post‐curing time and layer thickness on the tensile characteristics of various triply periodic minimal surface (TPMS) structures produced by mask stereolithography (MSLA). The study determined the best post‐curing duration, layer thickness, and TPMS lattice type to improve ultimate tensile strength (UTS) and absorbed energy. To experimentally evaluate the tensile characteristics, a dog bone‐shaped specimen was utilized. Three distinct TPMS structures, Gyroid (G), Neovius (N), and Diamond (D), were present in the test region. After investigating many process factors with response surface methodology (RSM), optimization methods are applied to find their best printing procedure. The work shows the novel use of RSM to optimize post‐curing and printing parameters on TPMS structure mechanical properties during manufacturing. According to the optimization results, the biggest factor affecting UTS is layer thickness, while the most significant factor increasing energy is curing time. The optimal operating parameters for MSLA printing based on the optimization results are a layer thickness of 0.05 mm, a post‐curing period of 40 min, and a lattice type of N. The optimum responses corresponding to the optimum parameters were determined as 7.16 MPa for UTS and 18.16 J for energy.Highlights
Optimized the production process parameters of TPMS geometries.
Compared TPMS structures for mechanical performance.
Identified optimal input parameters to improve UTS and energy absorption.
Conducted comprehensive experimental evaluations to validate the optimization.
An assessment of seasonal bait uptake by individual grey squirrels to develop a delivery system for oral contraceptives
Authors: Beatham Sarah E. , Stephens Philip A. , Goodwin Dominic , Coats Julia , Thomas Erin , Rochester Izzy , Massei Giovanna 
Published: September 2024

AbstractGlobally, human–wildlife conflicts continue to increase, owing to human population growth and expansion. Many of these conflicts concern the impacts of invasive non‐native species. In the UK, the invasive, non‐native grey squirrel Sciurus carolinensis negatively affects tree health and has caused the decline of the native red squirrel Sciurus vulgaris. Oral contraceptives are being developed to manage the impacts of the grey squirrel. To be effective, contraceptives will need to be deployed at a landscape scale, and will require a delivery system that is practical and economically viable. Understanding grey squirrel feeding behaviour is important so that delivery methods can be designed so that a sufficient number of target individuals receive an effective contraceptive dose at a time of year that will ensure their infertility throughout peak times of breeding. The main aims of this study were to assess how sex, season, squirrel density and bait point density influenced; (1) the probability of a squirrel visiting a feeder and (2) the amount of bait consumed from feeders. Field trials were conducted on six woodland populations of squirrels in three seasons, with four days of bait deployment via purpose‐designed squirrel‐specific bait hoppers with integrated PIT‐tag readers. It was possible to deliver multiple doses on most days to most male and female grey squirrels, with bait deployment more likely to be effective in spring, immediately before the second annual peak in squirrel breeding, followed by winter, immediately before the first peak in breeding. The results from this study could be used to design methods for delivering oral contraceptive baits to grey squirrels in the future and the methods used could be applied to other small mammal species and other bait delivery systems. © 2024 Crown copyright and The Author(s). Pest Management Science published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry. This article is published with the permission of the Controller of HMSO and the King's Printer for Scotland.
Three RNA helicase DDX genes are essential for the development and oocyte maturation in Laodelphax striatellus
Authors: Ma Qing‐Lu , Zhang Chuan‐Xi , Chen Jian‐Ping , Li Jun‐Min , Zhang Yan 
Published: September 2024

AbstractBackgroundDEAD‐box protein (DDX) is a member of the DDX RNA helicase family that exerts multiple functions in RNA metabolism, cell cycle, tumorigenesis, signal pathway, and fertility, particularly in mammals. Nevertheless, the biological functions of DDXs in insects have not been fully resolved and attracted increasing attention these years. Laodelphax striatellus (Hemiptera) is a notorious rice pest through feeding on rice sap and transmitting plant viruses. In this study, we aim to elucidate the functional characterization of DDXs in L. striatellus, and to exploit potential target genes for the development of pest control strategies.ResultsIn this study, we characterized the expression patterns of LsDDX6, LsDDX47, and LsDDX51 in planthoppers and analyzed their conserved motifs. These genes were found to be expressed in all tissues and developmental stages examined, with significantly higher transcript levels observed in the ovary. Knockdown of LsDDX6, LsDDX47, and LsDDX51 resulted in an obvious lethal phenotype in nymphs and abnormal ovarian development in adults. Furthermore, a total of 27 DDXs were identified in L. striatellus, and most DDXs were highly expressed in ovary and structure analysis result revealed that all of the DDXs possessed nine motifs that were unique to the DDX family.ConclusionThe three DDX RNA helicases (LsDDX6, LsDDX47, and LsDDX51) are essential for both survivorship and reproduction in L. striatellus. Considering a total number of 27 DDXs identified in L. striatellus, they might serve as promising candidates for application in RNAi‐based control of this destructive pest. © 2024 Society of Chemical Industry.
Management of postintubation tracheal stenosis with bronchoscope methods—An experience from two centers
Authors: Alaga Arvindran , Simhan Vineet , Lokeshwaran Srivatsa , Kumar K Sunil , Chetana Shanmukhappa Sanjana 
Published: September 2024

AbstractTracheal stenosis is a common complication of endotracheal intubation or tracheostomy, resulting in significant morbidity and mortality. Bronchoscope interventions have been proposed as a safe alternative for the management of post‐intubation post‐intubation tracheal stenosis (PITS). Data for patients diagnosed with PITS across two hospitals, between 2021 and 2022, encompassing demographic, clinical, and procedural details were gathered from electronic medical records, and analysed. Primary outcomes centred on assessing the incidence and severity of PITS through bronchoscope examination and radiological imaging, and the efficacy of bronchoscope interventions, including stenting and the application of mitomycin C. Twelve patients were managed for PITS. Majority of patients were females (9/12) with mean age of 46.41 years. Presenting signs and symptoms were dyspnea, rhonchi and failed extubation, the mean duration of intubation/ tracheostomy is 16.41 days (range: 3–40 days). Most common comorbidity was type 2 diabetes, (5 patients, 41.6%). The lesions mean length was 3.09 cm and Cotton‐Meyer Grade II and III. Prompt evaluation is crucial, in these patients. The Cotton‐Meyer grade is pivotal in treatment decisions, with intubating times correlating with the severity of stenotic disease. Our case series demonstrates the increasing utility of bronchoscopy in managing these cases.
A vexing case of a 73‐year‐old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease
Authors: Agwan Sushil , Zhang Lai‐Ying , Baker Thomas , Lane Michael , Godbolt David , Mackintosh John A. 
Published: September 2024

AbstractVEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X‐linked UBA1 gene in cells of myeloid lineage. It can present in a myriad of ways with the potential to affect various organ systems, including the lungs. VEXAS is usually steroid responsive, but no strong data exists for the use of a steroid‐sparing agent. There is limited emerging evidence for haematopoietic stem cell transplantation in a select number of cases. Regardless, prognosis for this condition is poor and a treatment algorithm remains a priority. Herein, we present a case of VEXAS that came to attention with discovery of a relatively asymptomatic interstitial lung disease and led to recurrent febrile episodes with evolving multi‐organ involvement.
Successful treatment of rheumatoid arthritis‐associated interstitial lung disease with filgotinib: A case report on janus kinase 1 inhibition
Authors: Sunaga Atsuhiko , Inoue Takuya 
Published: September 2024

AbstractFilgotinib, a janus kinase 1 (JAK1) inhibitor, is used in the treatment of rheumatoid arthritis (RA). RA‐associated interstitial lung disease (RA‐ILD) is a severe RA complication with no established effective treatment. We report the case of a patient with RA‐ILD successfully treated with filgotinib. A 46‐year‐old woman with RA and RA‐ILD, presenting with a non‐specific interstitial pneumonia pattern, was refractory to abatacept and prednisolone but responded to filgotinib. Both arthritis and RA‐ILD improved significantly, and the patient remained in remission for over 12 months. Basic research indicates that JAK1 plays a role in the cytokine signal transduction in ILD; however, there are no clinical reports on the efficacy of filgotinib in RA‐ILD. This case suggests filgotinib as a potential treatment for patients with RA‐ILD, particularly in the early stages of this disease.
Research on Satellite Navigation Control of Six‐Crawler Machinery Based on Fuzzy PID Algorithm
Authors: Shuai Wang , Huimin Wang , Haoyan Zhang , Yiwei Mao , Jiaxin Fan 
Published: September 2024

ABSTRACTThe six‐crawler driving mechanism plays a crucial role in the operation of large machines such as bucket‐wheel excavators, dumping machines, and mobile crushing stations, as it serves functions like bearing, movement and steering. The driving characteristics of this mechanism directly influence the safety and efficiency of these machinery systems. To enhance the design methodology for multi‐crawler machinery, improve path controllability, and achieve adaptive driving, a satellite navigation control system for six‐crawler machinery was developed based on the principles of real‐time kinematic (RTK) satellite positioning. This system utilizes the distance deviation and heading angle deviation between the actual path and the predetermined path of the six‐crawler machinery as inputs to a fuzzy proportion integration differentiation (fuzzy PID) controller. This controller regulates the deviation angle of the steering crawler and the driving speeds of each track, thereby ensuring precise path tracking control. To evaluate the path tracking control performance under both straight and curved driving conditions, a virtual prototype model of the six‐crawler mechanical system was established, and co‐simulation analysis was conducted. In addition, an experimental platform for path tracking control of six‐crawler machinery was established to validate the efficacy of the satellite navigation system. The actual tracking data obtained from various driving conditions and initial deviations demonstrated that the RTK satellite navigation path tracking control system exhibited excellent control performance.
Mediation Analysis with Multiple Exposures and Multiple Mediators
Authors: Zhao Yi 
Published: September 2024

ABSTRACTA mediation analysis approach is proposed for multiple exposures, multiple mediators, and a continuous scalar outcome under the linear structural equation modeling framework. It assumes that there exist orthogonal components that demonstrate parallel mediation mechanisms on the outcome, and thus is named principal component mediation analysis (PCMA). Likelihood‐based estimators are introduced for simultaneous estimation of the component projections and effect parameters. The asymptotic distribution of the estimators is derived for low‐dimensional data. A bootstrap procedure is introduced for inference. Simulation studies illustrate the superior performance of the proposed approach. Applied to a proteomics‐imaging dataset from the Alzheimer's disease neuroimaging initiative (ADNI), the proposed framework identifies protein deposition – brain atrophy – memory deficit mechanisms consistent with existing knowledge and suggests potential AD pathology by integrating data collected from different modalities.
Dual Sensing of Dopamine and Acetaminophen Mediated by Biomass Derived Phosphorous Rich Carbon
Authors: Prakasam Sampathkumar , Maharajan Narmadha , Chinnathambi Suresh 
Published: September 2024

AbstractMultimolecular detection using a single electrode matrix as well as utilization of inexpensive non‐metal doped carbon from biomass is an attractive approach to developing low‐cost sensors. Herein, we report the synthesis of phosphorous‐doped carbon (PDC) from almond seed skin by a simple self‐polymerization method and utilized as a sensing matrix for Dopamine (DA) and Acetaminophen (APAP) whose redox potential is nearer. The phytic acid in the almond seed skin provides phosphorus to the carbon during high‐temperature treatment. The elemental analysis results confirm the existence of phosphorous in PDC. The sensing results illustrate that the PDC modified glassy carbon electrode (PDC/GCE) exhibits excellent performance against DA and APAP with a wide linear range (0.5 μM–10 μM). The detection limit (LOD) and sensitivity have been calculated and the value is found to be 0.130 μM, 0.047 μA μM−1 for DA and 0.335 μM, 0.021 μA μM−1 for APAP, respectively. The sensitivity of PDC/GCE in real sample conditions was measured using DA and APAP spiked human serum and plasma samples, the results indicate excellent recoveries ranging from 96.00 % to 103.10 %. These encouraging findings reveal that the PDC is an appropriate material for determining the DA and APAP.
Seriation of Enzyme‐Functionalized Multilayers for the Design of Scalable Biomimetic Mineralized Structures
Authors: Foley Brittany , Nadaud Frédéric , Selmane Mohamed , Valentin Laetitia , Mezzetti Alberto , Egles Christophe , Jolivalt Claude , El Kirat Karim , Guibert Clément , Landoulsi Jessem 
Published: September 2024

AbstractBiomimetic hydroxyapatites are widely explored for their potential applications in the repair of mineralized tissues, particularly dental enamel, which is acellular and, thus, not naturally reformed after damage. Enamel is formed with a highly‐controlled hierarchical structure, which is difficult to replicate up to the macroscale. A biomimetic approach is thus warranted, based on the same principles that drive biomineralization in vivo. Herein, a strategy for the design of enamel‐like architectures is described, utilizing enzymes embedded in polyelectrolyte multilayers to generate inorganic phosphate locally, and provide a favorable chemical environment for the nucleation and growth of minerals. Moreover, a method is proposed to build up seriated mineral layers with scalable thicknesses, continuous mineral growth, and tunable morphology. Results show the outstanding growth of cohesive mineral layers, yielding macroscopic standalone fluoride and/or carbonate‐substituted hydroxyapatite materials with comparable crystal structure and composition to native human mineralized tissues. This strategy presents a promising path forward for the biomimetic design of biomineral materials, particularly relevant for restorative applications, with an exquisite level of synthetic control over multiple orders of magnitude.