bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Authors: Tinker Rory J. , Guess Tiffany , Rinker David C. , Sheehan Jonathan H. , Lubarsky Daniel , Porath Binu , Mosera Mackenzie , Mayo Ping , Solem Emily , Lee Laura A. , Sarma Asha , Brault Jennifer 
Published: September 2022

AbstractBackgroundA de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood‐Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alteration yields a positively charged stretch of three lysine residues. Functional studies confirmed this change results in a stronger interaction with negatively charged DNA and gain‐of‐function activity when compared to the wild‐type sequence. The CONDBA phenotype reported in association with p.Glu210Lys consists of normal early‐neurodevelopment followed by progressive motor, cognitive, and behavioral regression in early‐to‐middle childhood.Methods and ResultsThe current proband presented at 9 months of age with baseline developmental delay and more extensive neuroradiological findings, including pontine hypoplasia, thalamic volume loss and signal abnormality, and hypomyelination. Like the recurrent CONDBA p.Glu210Lys variant, this novel variant, c.608A>G p.(Gln203Arg) lies within the highly conserved second HMG‐box homology domain and involves the replacement of the wild‐type residue with a positively charged residue, arginine. Computational structural modeling demonstrates that this amino acid substitution potentiates the interaction between UBTF and DNA, likely resulting in a gain‐of‐function effect for the UBTF protein, UBF.ConclusionHere we present a new divergent phenotype associated with a novel, likely pathogenic, missense variant at a different position in the UBTF gene, c.608A>G p.(Gln203Arg).
Improving image quality and reducing dose with 2.5 MV diamond target volume‐of‐interest cone beam CT imaging
Authors: Borsavage Jennifer M. , Cherpak Amanda J. , Robar James L. 
Published: September 2022

AbstractPurposeOver the past decades, continuous efforts have been made to improve megavoltage (MV) image quality versus dose characteristics, including the implementation of low atomic number (Z) targets in MV beamlines and the development of more efficient detectors. Recently, a diamond target beam within a commercial radiotherapy treatment platform demonstrated improved planar contrast‐to‐noise‐ratio (CNR) per unit dose using a novel 2.5 MV sintered diamond target beam, which enabled image acquisition on the order of mGy. The present work assesses cone beam CT (CBCT) image quality characteristics for the novel 2.5 MV diamond target beam and the effects of volume‐of‐interest (VOI) collimation on the image quality and imaging dose distribution.MethodsA sintered diamond target was incorporated into the target arm of the linear accelerator, replacing the 2.5 MV commercial copper imaging target. CBCT image quality was evaluated against the commercial imaging beam with regard to spatial resolution and CNR versus dose. In addition to full‐field acquisitions, we investigated VOI techniques that collimate the imaging beam to preselected anatomy, to determine potential image quality improvements and dose sparing capacity. Using an anthropomorphic phantom, VOI regions were defined to encompass the maxillary and ethmoid sinuses and ranged in dimension from 3 cm to 4.85 cm equivalent radius. The MLC was fit to each VOI structure throughout a full CBCT arc and the corresponding MLC sequences were produced as XML scripts for acquisition. Calibrated radiochromic film was used in phantom to measure cumulative axial dose distributions during each CBCT acquisition.ResultsIn full‐field CBCT, the 2.5 MV diamond target beam demonstrated improved CNR versus dose compared to the commercial imaging beam, by factors of up to 1.7. The calculated modulation transfer function (MTF) displayed an increase of nearly 30% in f50 for the 2.5 MV diamond target beam compared to the commercial beam. Using VOI techniques, CNR increased monotonically as a function of equivalent radius at the bone–tissue interface. At the bone–sinus interface, the CNR for the full‐field case was slightly decreased compared to the largest VOI case. Imaging dose in the anteroposterior direction increased with increasing VOI equivalent radius.ConclusionThe novel 2.5 MV sintered diamond target beam presents a simple modification to the commercial imaging beam which provides improved image quality in full‐field CBCT and the potential for simultaneous dose sparing and CNR improvement at high‐contrast interfaces using VOI acquisition techniques.
Fully automated segmentation of prostatic urethra for MR‐guided radiation therapy
Authors: Xu Di , Ma Ting Martin , Savjani Ricky , Pham Jonathan , Cao Minsong , Yang Yingli , Kishan Amar U. , Scalzo Fabien , Sheng Ke 
Published: September 2022

AbstractPurposeAccurate delineation of the urethra is a prerequisite for urethral dose reduction in prostate radiotherapy. However, even in magnetic resonance‐guided radiation therapy (MRgRT), consistent delineation of the urethra is challenging, particularly in online adaptive radiotherapy. This paper presented a fully automatic MRgRT‐based prostatic urethra segmentation framework.MethodsTwenty‐eight prostate cancer patients were included in this study. In‐house 3D half fourier single‐shot turbo spin‐echo (HASTE) and turbo spin echo (TSE) sequences were used to image the Foley‐free urethra on a 0.35 T MRgRT system. The segmentation pipeline uses 3D nnU‐Net as the base and innovatively combines ground truth and its corresponding radial distance (RD) map during training supervision. Additionally, we evaluate the benefit of incorporating a convolutional long short term memory (LSTM‐Conv) layer and spatial recurrent convolution layer (RCL) into nnU‐Net. A novel slice‐by‐slice simple exponential smoothing (SEPS) method specifically for tubular structures was used to post‐process the segmentation results.ResultsThe experimental results show that nnU‐Net trained using a combination of Dice, cross‐entropy and RD achieved a Dice score of 77.1 ± 2.3% in the testing dataset. With SEPS, Hausdorff distance (HD) and 95% HD were reduced to 2.95 ± 0.17 mm and 1.84 ± 0.11 mm, respectively. LSTM‐Conv and RCL layers only minimally improved the segmentation precision.ConclusionWe present the first Foley‐free MRgRT‐based automated urethra segmentation study. Our method is built on a data‐driven neural network with novel cost functions and a post‐processing step designed for tubular structures. The performance is consistent with the need for online and offline urethra dose reduction in prostate radiotherapy.
Designing rewards‐based crowdfunding campaigns for strategic (but distracted) contributors
Authors: Chakraborty Soudipta , Ma Anyi , Swinney Robert 
Published: September 2022

AbstractIn rewards‐based crowdfunding, entrepreneurs solicit donations from a large number of individual contributors. If total donations exceed a prespecified funding target, the entrepreneur distributes nonmonetary rewards to contributors; otherwise, their donations are refunded. We study how to design such campaigns when contributors choose not just whether to contribute, but also when to contribute. We show that strategic contribution behavior—when contributors intentionally delay until campaign success is likely—can arise from the combination of nonrefundable (potentially very small) hassle costs and the risk of campaign failure, and can explain pledging patterns commonly observed in crowdfunding. Furthermore, such delays do not hurt the entrepreneur if contributors are perfectly rational, but they do if contributors are distracted, that is, if they might fail to return to the campaign after an intentional delay. To mitigate this, we find that an entrepreneur can use a simple menu of rewards with a fixed number of units sold at a low price, and an unlimited number sold at a higher price; this segments contributors over time based on the information they observe upon arrival. We show that, despite its simplicity, such a menu performs well compared to a theoretically optimal menu consisting of an infinite number of different rewards and price levels under many conditions.
Reliability and validity of the Chinese version of the instrument of health literacy competencies for health professionals
Authors: Qi Huan , Chen Shengguang , Chen Ting , Gan Wei , Yang Dan , Wang Yujie , Zhang Qinghua 
Published: September 2022

AbstractAimsThis study aimed to evaluate the reliability and validity of the Chinese version of an instrument of health literacy competencies for health professionals.DesignThis study utilized a cross‐sectional design.MethodsAuthorization was obtained from the authors of the original scale to translate the scale and perform cross‐cultural debugging. From August 2020 to November 2020, 573 health professionals were randomly selected from primary, secondary and tertiary hospitals in Huzhou to examine the reliability and validity of the Chinese version of an instrument of health literacy competencies for health professionals.ResultsThe Chinese version of the scale contains 49 items. The internal consistency Cronbach's α was 0.958 for the total scale and 0.791–0.956 for each dimension. The test–retest reliability was 0.973. Confirmatory factor analysis showed that the fitness degree of the model is good (χ2/df = 1.347, IFI = 0.924, TLI = 0.913, CFI = 0.922, GFI = 0.841, AGFI = 0.815, RMR = 0.011, RMSEA = 0.035).ConclusionThe Chinese version of an instrument of health literacy competencies is reliable and valid, which is a credible and effective tool to assess the level of health literacy competencies in Chinese health professionals.Patient or public contributionHealth professionals with good health literacy competencies can provide patient‐specific treatment and guidance to promote healthy outcomes for patients.
Beyond the ecocentric: Diverse values and attitudes influence engagement in pro‐environmental behaviours
Authors: Sockhill Nicola J. , Dean Angela J. , Oh Rachel R. Y. , Fuller Richard A. 
Published: September 2022

Abstract

Changing human behaviour and social systems are key to reversing the global biodiversity crisis. Pro‐environmental behaviour is guided by values and connection with nature, but because they have mostly been studied separately, the interplay between values and nature connection in influencing pro‐environmental behaviour remains unclear.

In particular, it is uncertain whether people who hold anthropocentric values have a less positive connection with nature than those who hold ecocentric values, and whether nature protection behaviours differ between people with different values or strengths of connection to nature.

We used a stratified survey of 2100 respondents across Australia to measure orientation towards nature. We created segments based on individual values and connection with nature and characterised each segment based on demographics, nature‐exposure, pro‐environmental behaviours, support for environmental policies and political alignment.

We discovered that a quarter of respondents had anthropocentric values alongside a strong connection with nature. Moreover, of those with a strong connection with nature, people with anthropocentric values more frequently undertook certain pro‐environmental behaviours than those with ecocentric values.

Our findings indicate that the strong expression of pro‐environmental behaviour is not limited to people with ecocentric values. Rather, people with different values and strengths of connection to nature engage in different types of impactful nature protection behaviours, challenging stereotypes about those with anthropocentric values.

These results further suggest that behavioural intervention strategies could be tailored to reach sectors of society with various combinations of values and strengths of connection to nature, thus maximising the expression of pro‐environmental behaviour across the entire population.

Read the free Plain Language Summary for this article on the Journal blog.
Interface‐engineered polypropylene/cellulose nanofibril composites with enhanced thermal stability, mechanical modulus, and impact strength
Authors: Tang Feng , Jeong Young Gyu 
Published: September 2022

AbstractTo attain interface‐engineered polypropylene/cellulose nanofibril (PP/CNF) composites with improved thermal and mechanical performance, PP was grafted with glycidyl methacrylate (GMA) and styrene via direct melt‐mixing and GMA/styrene‐grafted PP (PGMA) was reinforced with 1–10 wt% CNF content through a mass‐producible melt‐compounding process. The spectroscopic analyses confirmed the existence of specific hydrogen‐bonding interactions between CNF and PGMA in the composites. The melt‐rheological measurement revealed the occurrence of chemical reactions between the hydroxy group of CNF and the glycidyl group of PGMA of the composites. Accordingly, the dispersion and interfacial adhesion of CNF in the PGMA matrix was improved. β‐form PP crystals were also developed by accelerating the crystallization of PGMA and PGMA/CNF composites, unlike PP with only α‐form crystals. The storage modulus of PGMA/CNF composites was enhanced noticeably with increasing CNF content. Moreover, the impact strength of PGMA composite with 1 wt% CNF was found to be 29.2% higher than that of neat PP.
The relationship between residual limb health, motion within the socket, and prosthetic suspension
Authors: Baumann Molly , Price Ciera , Brousseau Lauren , Loftsgaarden Megan , Powell Jordan , Sanders Joan , Childers W. Lee 
Published: September 2022

AbstractResidual limb health is critical for continued prosthesis use; however, many prosthesis users experience skin‐related breakdown. The interface between the residual limb and the prosthetic socket sets the local mechanical environment and plays a role in skin stresses. Motion of the residual limb in the socket adds additional mechanical strain on the limb. This article explores the relationship between motion of the limb in the socket and residual limb health. We evaluated current methods for assessing residual limb health and motion of the residual limb in the socket and compared these evaluations across different prosthetic suspension systems. While few direct studies comparing residual limb health and motion exist, it has been shown that elevated vacuum suspension systems result in both improved residual limb health compared to passive suction and pin‐lock systems and decreased motion compared to passive suction, pin‐lock, knee sleeve, and anatomical suspension systems. While motion and health have not been directly linked, elevated vacuum suspension may demonstrate a relationship that reduced motion of the residual limb in the socket improves residual limb health. Further evaluation in this area is necessary to more completely and directly understand the relationship between residual limb motion and residual limb health.
Real‐world efficacy and safety outcomes of imatinib treatment in patients with chronic myeloid leukemia: An Australian experience
Authors: Adattini Josephine A. , Gross Annette S. , Wong Doo Nicole , McLachlan Andrew J. 
Published: September 2022

AbstractTyrosine kinase inhibitors (TKI) have revolutionized the treatment of chronic myeloid leukemia (CML), but patients still experience treatment‐limiting toxicities or therapeutic failure. To investigate the real‐world use and outcomes of imatinib in patients with CML in Australia, a retrospective cohort study of patients with CML commencing imatinib (2001–2018) was conducted across two sites. Prescribing patterns, tolerability outcomes, and survival and molecular response were evaluated. 86 patients received 89 imatinib treatments. Dose modifications were frequently observed (12‐month rate of 58%). At last follow‐up, 62 patients (5‐year rate of 55%) had permanently discontinued imatinib treatment, of which 44 switched to another TKI (5‐year rate of 46%). Within 3 months of starting imatinib, 43% (95% CI, 32%–53%) of patients experienced imatinib‐related grade ≥3 adverse drug reactions (ADRs). Higher comorbidity score, lower body weight, higher imatinib starting dose, and Middle Eastern or North African ancestry were associated with a higher risk of grade ≥3 ADR occurrence on multivariable analysis (MVA). Estimated overall survival and event‐free survival rates at 3 years were 97% (95% CI, 92%–100%) and 81% (95% CI, 72%–92%), respectively. Cumulative incidence of major molecular response (MMR) at 3 years was 63% (95% CI, 50%–73%). On MVA, imatinib starting dose, ELTS score, BCR‐ABL1 transcript type, pre‐existing pulmonary disease, and potential drug–drug interactions were predictive of MMR. In conclusion, imatinib induced deep molecular responses that translated to good survival outcomes in a real‐world setting, but was associated with a higher incidence of ADRs, dose modifications and treatment discontinuations than in clinical trials.
Heilaohuacid G, a new triterpenoid from Kadsura coccinea inhibits proliferation, induces apoptosis, and ameliorates inflammation in RA‐FLS and RAW 264.7 cells via suppressing NF‐𝜅B pathway
Authors: Yang Yu‐pei , Jian Yu‐qing , Liu Yong‐bei , Xie Qing‐ling , Yu Huang‐he , Wang Bin , Li Bin , Peng Cai‐yun , Wang Wei 
Published: September 2022

AbstractHeilaohu, the roots of Kadsura coccinea, has been used in Tujia ethnomedicine to treat rheumatic arthritis (RA). Heilaohuacid G (1), a new 3,4‐seco‐lanostane type triterpenoid isolated from the ethanol extract of Heilaohu, whose structure was determined using HR‐ESI‐MS data, NMR spectroscopic analyses, and ECD calculations. In this study, our purpose is to elucidate the mechanisms of Heilaohuacid G in the treatment of RA by inhibited proliferation of rheumatoid arthritis‐fibroblastoid synovial (RA‐FLS) cells and inhibited the inflammatory reactions in LPS‐induced RA‐FLS and RAW 264.7 cell lines via inhibiting NF‐κB pathway. The biological activity screening experiments indicated that Heilaohuacid G significantly inhibited proliferation of RA‐FLS cells with IC50 value of 8.16 ± 0.47 μM. CCK‐8 assay, ELISA, flow cytometry assay, and Western blot were used to measure the changes of cell viability, apoptosis, and the release of inflammatory cytokines. Heilaohuacid G was found not only induced RA‐FLS cell apoptosis, but also inhibited the inflammatory reactions in LPS‐induced RA‐FLS and RAW 264.7 cell lines via inhibiting NF‐κB pathway. Furthermore, Heilaohuacid G (p.o.) at doses of 3.0, 6.0, and 12.0 mg/kg and the ethanol extracts of Heilaohu (p.o.) at doses of 200, 400, and 800 mg/kg both were confirmed antiinflammatory effects on xylene‐induced ear mice edema model.
Parameter andqasymptotics of Lq‐norms of hypergeometric orthogonal polynomials
Authors: Sobrino Nahual , Dehesa Jesus S. 
Published: September 2022

AbstractThe three canonical families of the hypergeometric orthogonal polynomials in a continuous real variable (Hermite, Laguerre, and Jacobi) control the physical wavefunctions of the bound stationary states of a great number of quantum systems [Correction added after first online publication on 21 December, 2022. The sentence has been modified.]. The algebraic ‐norms of these polynomials describe many chemical, physical, and information theoretical properties of these systems, such as, for example, the kinetic and Weizsäcker energies, the position and momentum expectation values, the Rényi and Shannon entropies and the Cramér‐Rao, the Fisher‐Shannon and LMC measures of complexity. In this work, we examine review and solve theq‐asymptotics and the parameter asymptotics (i.e., when the weight function's parameter tends towards infinity) of the unweighted and weighted ‐norms for these orthogonal polynomials. This study has been motivated by the application of these algebraic norms to the energetic, entropic, and complexity‐like properties of the highly excited Rydberg and high‐dimensional pseudo‐classical states of harmonic (oscillator‐like) and Coulomb (hydrogenic) systems, and other quantum systems subject to central potentials of anharmonic type (such as, e.g., some molecular systems) [Correction added after first online publication on 21 December, 2022. Oscillatorlike has been changed to oscillator‐like.].
Method optimization of the simultaneous detection of B12 congeners leading to the detection of a novel isomer of hydroxycobalamin in seawater
Authors: Möller Kristof , Krock Bernd , Koch Florian 
Published: September 2022

RationaleMore than half of surveyed microalgae and over 90% of harmful algae have an obligate requirement for vitamin B12, but methods for directly measuring dissolved B12 in seawater are scarce due to low concentrations and rapid light‐induced hydrolysis.MethodsWe present a method to detect and measure the four main congeners of vitamin B12 dissolved in seawater. The method includes solid‐phase extraction, separation by ultrahigh‐performance liquid chromatography and detection by triple‐quadrupole tandem mass spectrometry utilizing an electrospray ion source. This method was applied to coastal field samples collected in the German Bay, Baltic Sea and the Danish Limfjord system.ResultsThe total dissolved B12 pool ranged between 0.5 and 2.1 pM. Under ambient conditions methyl‐B12 and adenosyl‐B12 were nearly fully hydrolyzed to hydroxy‐B12 in less than 1 h. Hydroxy‐B12 and a novel, corresponding isomer were the main forms of B12 found at all field sites. This isomer eluted well after the OH‐B12 peak and was also detected in commercially available OH‐B12. Both compounds showed very high similarity in their collision‐induced dissociation spectra.ConclusionsThe high instability of the biologically active forms of Me‐B12 and Ado‐B12 towards hydrolysis was shown, highlighting the importance of reducing the duration of the extraction protocol. In addition, the vitamin B12 pool in the study area was mostly comprised of a previously undescribed isomer of OH‐B12. Further studies into the structure of this isomer and its bioavailability are needed.
Charcoal maker's pneumoconiosis
Authors: Watanabe Hiroki , Sumi Toshiyuki , Keira Yoshiko 
Published: September 2022

Key messageNegligence of health safety is common cause for occupational hazards such as charcoal maker's pneumoconiosis. This case report highlights such a case where the condition developed because of not wearing a dust mask due to the heat during production. As the condition is mostly asymptomatic, preventive measures must be encouraged.
Fire risk communication in the urban informal sector: Evidence from traditional marketplaces in Accra, Ghana
Authors: Abunyewah Matthew , Okyere Seth A. , Frimpong Louis K. , Diko Stephen K. , Erdiaw‐Kwasie Michael O. , Boateng Victor 
Published: September 2022

AbstractUrban marketplace fires in Ghana are chronic, devasting in economic losses and disproportionately impacting informal sector workers. Yet, the scholarly works on urban disasters have focused on hydrometeorological and other man‐made disasters to the neglect of marketplace fires, particularly the challenges in risk communication between emergency management agencies and urban marketplace workers. In seeking to extend the emerging but scant work on urban marketplace fires in Ghana, this paper analysed fire risk communication to understand how socio‐cultural factors influence the perceptions and protective behavioral strategies of traders in two traditional urban marketplaces of Accra. In‐depth interviews with both public agencies and traders showed that traders’ social networks and interactions are important sources and channels for fire risk communication, albeit unharnessed by formal emergency management agencies. It also revealed how cultural elements such as religious beliefs about fire risks affect proactiveness in fire risk preparedness and response. To ensure effective risk communication about marketplace fires, this paper calls attention to and mainstreaming of socio‐cultural aspects of everyday life in marketplaces into disaster risk planning and management.