bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Authors: Lasa‐Aranzasti Amaia , Larasati Yonika A. , da Silva Cardoso Juliana , Solis Gonzalo P. , Koval Alexey , Cazurro‐Gutiérrez Ana , Ortigoza‐Escobar Juan Dario , Miranda Maria Concepción , De la Casa‐Fages Beatriz , Moreno‐Galdó Antonio , Tizzano Eduardo F. , Gómez‐Andrés David , Verdura Edgard , Katanaev Vladimir L. , Pérez‐Dueñas Belén ,   Study Group of GNAO1 patients from Spain
Published: June 2024

AbstractBackgroundDefects in GNAO1, the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes.ObjectivesWe aimed to analyze the clinical phenotype and the molecular characterization of GNAO1‐related disorders.MethodsPatients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation, analysis of homemade‐videos, and an online questionnaire completed by families were analyzed. We studied Gαo cellular expression, the interactions of the partner proteins, and binding to guanosine triphosphate (GTP) and G‐protein‐coupled receptors (GPCRs).ResultsEighteen patients with GNAO1 genetic defects had a complex neurodevelopmental disorder, epilepsy, central hypotonia, and movement disorders. Eleven patients showed neurological deterioration, recurrent hyperkinetic crisis with partial recovery, and secondary complications leading to death in three cases. Deep brain stimulation improved hyperkinetic crisis, but had inconsistent benefits in dystonia. The molecular defects caused by pathogenic Gαo were aberrant GTP binding and hydrolysis activities, an inability to interact with cellular binding partners, and reduced coupling to GPCRs. Decreased localization of Gαo in the plasma membrane was correlated with the phenotype of “developmental and epileptic encephalopathy 17.” We observed a genotype–phenotype correlation, pathogenic variants in position 203 were related to developmental and epileptic encephalopathy, whereas those in position 209 were related to neurodevelopmental disorder with involuntary movements. Milder phenotypes were associated with other molecular defects such as del.16q12.2q21 and I344del.ConclusionWe highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post‐hyperkinetic crisis state. We confirm a molecular‐based genotype–phenotype correlation for specific variants. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Targeted immunotherapy and nanomedicine for rhabdomyosarcoma: The way of the future
Authors: Morel Victoria Judith , Rössler Jochen , Bernasconi Michele 
Published: June 2024

AbstractRhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. Histology separates two main subtypes: embryonal RMS (eRMS; 60%–70%) and alveolar RMS (aRMS; 20%–30%). The aggressive aRMS carry one of two characteristic chromosomal translocations that result in the expression of a PAX3::FOXO1 or PAX7::FOXO1 fusion transcription factor; therefore, aRMS are now classified as fusion‐positive (FP) RMS. Embryonal RMS have a better prognosis and are clinically indistinguishable from fusion‐negative (FN) RMS. Next to histology and molecular characteristics, RMS risk groupings are now available defining low risk tumors with excellent outcomes and advanced stage disease with poor prognosis, with an overall survival of about only 20% despite intensified multimodal treatment. Therefore, development of novel effective targeted strategies to increase survival and to decrease long‐term side effects is urgently needed. Recently, immunotherapies and nanomedicine have been emerging for potent and effective tumor treatments with minimal side effects, raising hopes for effective and safe cures for RMS patients. This review aims to describe the most relevant preclinical and clinical studies in immunotherapy and targeted nanomedicine performed so far in RMS and to provide an insight in future developments.
Membrane Receptor‐Mediated Disruption of Cellular Homeostasis: Changes in Intracellular Signaling Pathways Increase the Toxicity of Ochratoxin A
Authors: Aydemir Mesut Cihan , Yaman İbrahim , Kilic Mehmet Akif 
Published: June 2024

AbstractOrganisms maintain their cellular homeostatic balance by interacting with their environment through the use of their cell surface receptors. Membrane based receptors such as the transforming growth factor β receptor (TGFR), the prolactin receptor (PRLR), and hepatocyte growth factor receptor (HGFR), along with their associated signaling cascade, play significant roles in retaining cellular homeostasis. While these receptors and related signaling pathways are essential for health of cell and organism, their dysregulation can lead to imbalance in cell function with severe pathological conditions such as cell death or cancer. Ochratoxin A (OTA) can disrupt cellular homeostasis by altering expression levels of these receptors and/or receptor‐associated intracellular downstream signaling modulators and/or pattern and levels of their phosphorylation/dephosphorylation. Recent studies have shown that the activity of the TGFR, the PRLR, and HGFR and their associated signaling cascades change upon OTA exposure. A critical evaluation of these findings suggests that while increased activity of the HGFR and TGFR signaling pathways leads to an increase in cell survival and fibrosis, decreased activity of the PRLR signaling pathway leads to tissue damage. This review explores the roles of these receptors in OTA‐related pathologies and effects on cellular homeostasis.
Differences in Positive Airway Pressure Requirements in Obstructive Sleep Apnea Between Black and White Patients
Authors: Cai Yi , Parekh Manan H. , Rodin Julianna , Tangutur Akshay , Yu Jason L. , Keenan Brendan T. , Schwartz Alan R. , Dedhia Raj C. 
Published: June 2024

AbstractObjectiveThere are disparities between Black and White patients in the utilization of positive airway pressure (PAP) alternatives for obstructive sleep apnea (OSA). Given low utilization rates among Black patients, there is limited knowledge of PAP alternative outcomes in this group. Therapeutic PAP levels are clinically accessible measures that have been shown to predict PAP alternative outcomes. Herein, we examined differences in PAP requirements between Black and White patients in a large clinical sample.Study DesignCross‐sectional.SettingAcademic sleep center.MethodsWe included OSA patients prescribed autoadjusting PAP between January 2018 and 2020 with baseline apnea‐hypopnea index (AHI) ≥ 10. Mean and 90th percentile PAP levels were compared between White and Black patients who used PAP for ≥1 hour daily using linear regression controlling for age, sex, body mass index (BMI), AHI, oxygen saturation nadir, and mask type.ResultsThere were 157 Black and 234 White patients who were generally obese (BMI, 37.3 ± 8.7) with severe OSA (AHI, 36.9 ± 25.6). Black patients had a 0.68 cm higher (95% confidence interval [CI]: 0.36, 1.35) mean PAP level and 0.85 cm H2O higher (95% CI: 0.36, 1.35) 90th percentile PAP level than white patients. Although statistically significant, differences were small and not clinically meaningful.ConclusionBlack and White OSA patients had clinically insignificant differences in PAP requirements, suggesting comparable upper airway collapsibility. Considering the predictive value of therapeutic PAP levels, our findings suggest Black and White patients may have comparable PAP alternative responses from a collapsibility standpoint. Future studies should explore reasons for low utilization of PAP alternatives among Black patients.
Immigrant Status Disparities in Hearing Health Care Use in the United States
Authors: Halagur Akash S. , Fitzgerald Matthew B. , Megwalu Uchechukwu C. 
Published: June 2024

AbstractObjectiveTo determine whether immigrant status is associated with likelihood of audiogram and hearing aid use among US adults with hearing loss.Study DesignCross‐sectional study.SettingNationally representative data from 2009 to 2010, 2011 to 2012, 2015 to 2016, and 2017 to 2020 National Health and Nutrition Examination Survey (NHANES) cycles.MethodsThis cross‐sectional study of 4 merged cycles of NHANES included 12,455 adults with subjective (self‐reported) or objective (audiometric) hearing loss. Sequentially adjusted logistic regressions were used to assess the association of immigration status with likelihood of having undergone audiogram among those with objective and self‐reported hearing loss, and with likelihood of hearing aid use among candidates with objective hearing loss.ResultsImmigrants were less likely to have received an audiogram among subjects with subjective (odds ratio [OR]: 0.81, 95% confidence interval [CI]: 0.75‐0.87), and objective (OR: 0.76, 95% CI: 0.72‐0.81) hearing loss, compared to nonimmigrants. The association persisted for those with subjective (OR: 0.88, 95% CI: 0.81‐0.96), and objective (OR: 0.87, 95% CI: 0.80‐0.96) hearing loss after adjusting for sociodemographic factors, comorbidities, insurance, and hearing quality, but disappeared in both groups after adjusting for English proficiency. Immigrants were less likely to use hearing aids (OR: 0.90, 95% CI: 0.87‐0.93). However, this association disappeared (OR: 0.98, 95% CI: 0.93‐1.04) in the adjusted model.ConclusionImmigrant status is a significant barrier to hearing health care and is associated with lower rates of audiometric testing and hearing aid use among individuals with hearing loss.
Influence of Economic Connectedness on Pediatric Obstructive Sleep Apnea Severity and Adenotonsillectomy Outcomes
Authors: Kim Jenny , Nwaogu Cullins , Mitchell Ron B. , Johnson Romaine F. 
Published: June 2024

AbstractObjectiveTo examine the influence of economic connectedness (EC), a measure of social capital, on obstructive sleep apnea (OSA) severity and adenotonsillectomy outcomes in children.Study DesignRetrospective study.SettingSingle tertiary medical center.MethodsThe study population included 286 children who were referred for full‐night polysomnography for OSA and underwent adenotonsillectomy. The primary outcome was the relationship between EC and the presence of severe OSA, and secondary outcomes included postoperative emergency room visits and residual OSA after adenotonsillectomy. Linear regression, Kruskal‐Wallis test, Pearson's χ2 test, and multiple logistic regression were used for categorical and continuous data as appropriate.ResultsIn this population, the median age was 9.0 (interquartile range [IQR] = 6.9‐11.7) and 144 (50.3%) were male. The majority were white (176, 62.0%), black (60, 21.1%), and/or of Hispanic ethnicity (173, 60.9%). The median EC of this population was 0.64 (IQR = 0.53‐0.86). Higher EC was associated with decreased odds of having severe OSA (odds ratio: 0.17, 95% confidence interval = 0.05‐0.61). However, EC was not associated with either postoperative emergency room visits or residual OSA.ConclusionEC was significantly associated with severe OSA (ie, apnea‐hypopnea index ≥ 10) but not with postoperative emergency room visits or residual OSA after adenotonsillectomy. Further research is needed to understand the effects of various social capital measures on pediatric OSA and adenotonsillectomy outcomes.
Study on microwave absorption performance of the skin‐core dual‐domain structure constructed with thin‐ply laminate and honeycomb
Authors: Liang Xia , Zhang Zhu‐Qing , Zhang Jun‐Tao , Wu Hai‐Hong , Zhao Lei , Li Xiang , Jiang Yue 
Published: June 2024

AbstractThis study introduces an innovative approach to enhance the absorption capabilities of skin‐core dual‐domain structure radar‐absorbing materials (SDSRAM) composed of thin‐ply laminates and honeycomb. The upper skin laminates consist of transmissive skin and impedance matching layer. The impedance matching layer was hot‐pressed using functionalized absorbed thin‐ply glass fibers prepregs, flaked carbonyl iron powder (FCIP) and multi‐walled carbon nanotubes (MWCNTs) as the absorber. The lower skin was manufactured using carbon fiber‐plated nickel. The core is prepared by honeycomb modified (HCM). The permittivity and permeability of the skin laminates and the HCM were measured by wave‐guide method. The impact of FCIP/MWCNT on the electromagnetic (EM) parameters of the thin‐ply laminates and the influence of MWCNTs on the permittivity of the honeycomb were investigated. Microwave absorption properties of SDSRAM were assessed through the measurement of reflection loss (RL) using the arch method and simulated using the microwave simulation software CST studio suite 2020. Experimental verification was conducted to confirm the absorbing performance. The results show that the effective absorption bandwidth (RL < 10 dB) of SDSRAM covers the frequency range of 2.2–18 GHz, with a maximum absorption intensity of −42.5 dB. The introduction of the thin‐ply laminates caused a shift in the peak of the reflectance curve toward lower frequencies.Highlights
Functionalized absorbed glass fibers were prepared using fiber spreading functional sizing integrated process.
A new skin‐core dual‐domain synergistic modulation absorbed structure was developed with thin‐ply laminates and modified honeycomb. Its broadband absorption mechanism was discussed.
Desired broadband absorption performance was acquired with thin thickness.
Tunability and molecular weight dependence of the physical aging behavior of polystyrene and poly(methyl methacrylate) films
Authors: Wang Tong , Wei Tong , Lin Xiaobo , Torkelson John M. 
Published: June 2024

AbstractThis study investigated the physical aging behavior of commodity polymers, specifically polystyrene (PS) and poly(methyl methacrylate) (PMMA), across various molecular weights (MWs). Using ellipsometry, we examine the physical aging behavior of bulk polymer films supported on silicon across a wide range of quench depths below glass transition temperature. At shallow quench depths, where the physical aging behavior is thermodynamically controlled, we observe that the physical aging rate for both PS and PMMA increases with decreasing MW. The MW dependence of the physical aging rate in the thermodynamic‐control region is hypothesized to originate from the MW dependence of the fractional free volume. In support of this hypothesis, we observe that the difference in thermal expansivity between the rubbery state and the glassy state (αrubbery − αglassy), which has been demonstrated to be positively related to fractional free volume, exhibits a similar MW dependence as the physical aging behavior. This correlation lends support to the free volume model of physical aging. Building on the free volume model, we propose a method to tune the physical aging behavior, demonstrating that incorporating flexible chain ends alters the physical aging behavior in a manner akin to reducing MW.Highlights
Polystyrene and poly(methyl methacrylate) have maximum physical aging rates at specific quench depths.
Physical aging behavior is thermodynamically or kinetically controlled.
With thermodynamic control, the aging rate increases with a reduction in molecular weight.
With thermodynamic control, the aging rate correlates with free volume.
Aging behavior can be tuned by blending with low MW polymer with highly flexible chain ends.
Identification and characterization of the COPII vesicle‐forming GTPase Sar1 in Chlamydomonas
Authors: Chung Kin Pan , Frieboese Daniel , Waltz Florent , Engel Benjamin D. , Bock Ralph 
Published: June 2024

AbstractEukaryotic cells are highly compartmentalized, requiring elaborate transport mechanisms to facilitate the movement of proteins between membrane‐bound compartments. Most proteins synthesized in the endoplasmic reticulum (ER) are transported to the Golgi apparatus through COPII‐mediated vesicular trafficking. Sar1, a small GTPase that facilitates the formation of COPII vesicles, plays a critical role in the early steps of this protein secretory pathway. Sar1 was characterized in yeast, animals and plants, but no Sar1 homolog has been identified and functionally analyzed in algae. Here we identified a putative Sar1 homolog (CrSar1) in the model green alga Chlamydomonas reinhardtii through amino acid sequence similarity. We employed site‐directed mutagenesis to generate a dominant‐negative mutant of CrSar1 (CrSar1DN). Using protein secretion assays, we demonstrate the inhibitory effect of CrSar1DN on protein secretion. However, different from previously studied organisms, ectopic expression of CrSar1DN did not result in collapse of the ER‐Golgi interface in Chlamydomonas. Nonetheless, our data suggest a largely conserved role of CrSar1 in the ER‐to‐Golgi protein secretory pathway in green algae.
The migratory impact of COVID‐19: The role of time and distances in the migration decisions of Hungarians during the COVID‐19 pandemic
Authors: Zöldi László Zoltán , Ligeti Anna Sára , Csányi Zoltán 
Published: June 2024

AbstractDespite obvious consequences of pandemics on human mobility, attempts to quantify the migratory impact of COVID‐19 remained scarce, largely due to a general lack of data necessary for such assessments. The guiding principle of this paper is that common statistical definitions of migration—linked to usual residences—fail to capture a considerable share of the fast‐changing and diverse universe of cross‐border movements, which characterized the years of the pandemic. In this study, panels of short‐ and longer‐term movements were created, and hybrid (machine learning‐supported) interrupted time series analyses were performed on the basis of pre‐pandemic monthly migration flows data to quantify the impact of COVID‐19 on international migration. Social insurance data up to 2019 was used to estimate counterfactual emigration and return flows of Hungarians for 2020 and 2021 and compared with actual migration data a posteriori. Beyond the durations of staying abroad, we sought to look at how COVID‐related impacts on migration differ by destinations. In accordance with the results, 25% of expected emigrations in cumulative terms had not taken place due to the pandemic if only long‐term migrations are considered. This share is 22% when a more flexible conceptualization of geographic mobilities is applied. Behind this relatively small difference, however, there are large variations by destinations. Although similar cumulative impact cannot be detected in case of return migrations, the outbreak of the coronavirus resulted in an unprecedented wave of backwards mobilities, the impact of which however was fading away by the end of the 2‐years period.
Study and Design of Corrugated Cardboard Trays With Microwaves by Experimental Analysis (EA) and Finite Element Methods (FEM)
Authors: Di Russo Franco Maria , Desole Maria Pia , Gisario Annamaria , Genovesi Annalisa , Barletta Massimiliano 
Published: June 2024

ABSTRACTThe purpose of the work is to study by experimental analysis and finite element methods the mechanical response of a packaging, consisting of a corrugated cardboard container, used for the transport of fruit and vegetables. During the container design, three different configurations were selected which differ both in the choice of liner and in the type of wave. In particular, the type E, F and N microwaves were chosen. They are characterized by a lower amplitude than the high and medium waves commonly used in corrugated cardboard packaging, making it possible to reduce material consumption and, consequently, costs. In the initial phase of the study, experimental tests were performed to evaluate the mechanical strength of the liners. In addition, edge compression tests (ECTs) were performed to determine the stacking resistance of the structure. The break‐in resistance of the structures was analysed using a test conducted according to an internal standard, called strength packaging test (SPT). Subsequently, a parametric study was set up with the finite element method for the simulation of the mechanical behaviour of the three structures, using the homogenization technique. The comparison between the maximum total deformations, measured experimentally and calculated numerically, has highlighted the need to introduce corrective coefficients to improve the homogenization of the wave structure. In this way, it was possible to improve the matching of the results obtained on the structures simulated by the homogenization technique and those obtained on the corresponding real structures.
Charging the Future: Harnessing Nature's Designs for Bioinspired Molecular Electrodes
Authors: Asare Harrison , Blodgett William , Satapathy Sitakanta , John George 
Published: June 2024

AbstractThe transition toward electric‐powered devices is anticipated to play a pivotal role in advancing the global net‐zero carbon emission agenda aimed at mitigating greenhouse effects. This shift necessitates a parallel focus on the development of energy storage materials capable of supporting intermittent renewable energy sources. While lithium‐ion batteries, featuring inorganic electrode materials, exhibit desirable electrochemical characteristics for energy storage and transport, concerns about the toxicity and ethical implications associated with mining transition metals in their electrodes have prompted a search for environmentally safe alternatives. Organic electrodes have emerged as promising and sustainable alternatives for batteries. This review paper will delve into the recent advancements in nature‐inspired electrode design aimed at addressing critical challenges such as capacity degradation due to dissolution, low operating voltages, and the intricate molecular‐level processes governing macroscopic electrochemical properties.
Phosphorous Vacancy and Built‐In Electric Field Effect of Co‐Doped MoP@MXene Heterostructures to Tune Catalytic Activity for Efficient Overall Water Splitting
Authors: Zhang Jiacheng , Wang Xinying , Du Feixiang , Wu Jiayi , Xiao Shengfu , Zhou Yiru , Wu Hao , Shao Zhuhang , Cai Weitong , Li Yunyong 
Published: June 2024

AbstractDeveloping cost‐effective, durable bifunctional electrocatalysts is crucial but remains challenging due to slow hydrogen/oxygen evolution reaction (HER/OER) kinetics in water electrolysis. Herein, a combined engineering strategy of phosphorous vacancy (Vp) and spontaneous built‐in electric field (BIEF) is proposed to design novel highly‐conductive Co‐doped MoP@MXene heterostructures with phosphorous vacancy (Vp‐Co‐MoP@MXene). Wherein, Co doping regulates the surface electronic structure and charge re‐distribution of MoP, Vp induces more defects and active sites, while BIEF accelerates the interfacial charge transfer rate between Vp‐Co‐MoP and MXene. Therefore, the synergistic integration of Vp‐Co‐MoP/MXene efficiently decreases activation energy and kinetic barrier, thus promoting its intrinsically catalytic activity and structural stability. Consequently, the Vp‐Co‐MoP@MXene catalyst displays low overpotentials of 102.3/196.5 and 265.0/320.0 mV at 10/50 mA cm−2 for HER and OER, respectively. Notably, two‐electrode electrolyzers with the Vp‐Co‐MoP@MXene bifunctional catalysts to achieve 10/50 mA cm−2, only need low‐cell voltages of 1.57/1.64 V in alkaline media. Besides, experimental and theoretical results confirm that the hetero‐structure effectively reduces hydrogen adsorption free energy and rate‐determining‐step energy barrier of OER intermediates, thereby greatly boosting its intrinsically catalytic activity. This work verifies an effective strategy to fabricate efficient non‐precious bifunctional electro‐catalysts for water splitting via combination engineering of phosphorous vacancy, cation doping, and BIEF.