bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paediatric aortic valve replacement: a meta-analysis and microsimulation study
Authors: Notenboom Maximiliaan L , Schuermans Art , Etnel Jonathan R G , Veen Kevin M , van de Woestijne Pieter C , Rega Filip R , Helbing Willem A , Bogers Ad J J C , Takkenberg Johanna J M 
Published: June 2023

Abstract

Aims
To support decision-making in children undergoing aortic valve replacement (AVR), by providing a comprehensive overview of published outcomes after paediatric AVR, and microsimulation-based age-specific estimates of outcome with different valve substitutes.

Methods and results
A systematic review of published literature reporting clinical outcome after paediatric AVR (mean age &lt;18 years) published between 1/1/1990 and 11/08/2021 was conducted. Publications reporting outcome after paediatric Ross procedure, mechanical AVR (mAVR), homograft AVR (hAVR), and/or bioprosthetic AVR were considered for inclusion. Early risks (&lt;30d), late event rates (&gt;30d) and time-to-event data were pooled and entered into a microsimulation model. Sixty-eight studies, of which one prospective and 67 retrospective cohort studies, were included, encompassing a total of 5259 patients (37 435 patient-years; median follow-up: 5.9 years; range 1–21 years). Pooled mean age for the Ross procedure, mAVR, and hAVR was 9.2 ± 5.6, 13.0 ± 3.4, and 8.4 ± 5.4 years, respectively. Pooled early mortality for the Ross procedure, mAVR, and hAVR was 3.7% (95% CI, 3.0%–4.7%), 7.0% (5.1%–9.6%), and 10.6% (6.6%–17.0%), respectively, and late mortality rate was 0.5%/year (0.4%–0.7%/year), 1.0%/year (0.6%–1.5%/year), and 1.4%/year (0.8%–2.5%/year), respectively. Microsimulation-based mean life-expectancy in the first 20 years was 18.9 years (18.6–19.1 years) after Ross (relative life-expectancy: 94.8%) and 17.0 years (16.5–17.6 years) after mAVR (relative life-expectancy: 86.3%). Microsimulation-based 20-year risk of aortic valve reintervention was 42.0% (95% CI: 39.6%–44.6%) after Ross and 17.8% (95% CI: 17.0%–19.4%) after mAVR.

Conclusion
Results of paediatric AVR are currently suboptimal with substantial mortality especially in the very young with considerable reintervention hazards for all valve substitutes, but the Ross procedure provides a survival benefit over mAVR. Pros and cons of substitutes should be carefully weighed during paediatric valve selection.
Beneficial effects of chronic mexiletine treatment in a human model of SCN5A overlap syndrome
Authors: Nasilli Giovanna , Yiangou Loukia , Palandri Chiara , Cerbai Elisabetta , Davis Richard P , Verkerk Arie O , Casini Simona , Remme Carol Ann 
Published: June 2023

Abstract

Aims
SCN5A mutations are associated with various cardiac phenotypes, including long QT syndrome type 3 (LQT3), Brugada syndrome (BrS), and cardiac conduction disease (CCD). Certain mutations, such as SCN5A-1795insD, lead to an overlap syndrome, with patients exhibiting both features of BrS/CCD [decreased sodium current (INa)] and LQT3 (increased late INa). The sodium channel blocker mexiletine may acutely decrease LQT3-associated late INa and chronically increase peak INa associated with SCN5A loss-of-function mutations. However, most studies have so far employed heterologous expression systems and high mexiletine concentrations. We here investigated the effects of a therapeutic dose of mexiletine on the mixed phenotype associated with the SCN5A-1795insD mutation in HEK293A cells and human-induced pluripotent stem cell–derived cardiomyocytes (hiPSC-CMs).

Methods and results
To assess only the chronic effects on trafficking, HEK293A cells transfected with wild-type (WT) SCN5A or SCN5A-1795insD were incubated for 48 h with 10 µm mexiletine followed by wash-out, which resulted in an increased peak INa for both SCN5A-WT and SCN5A-1795insD and an increased late INa for SCN5A-1795insD. Acute re-exposure of HEK293A cells to 10 µm mexiletine did not impact on peak INa but significantly decreased SCN5A-1795insD late INa. Chronic incubation of SCN5A-1795insD hiPSC-CMs with mexiletine followed by wash-out increased peak INa, action potential (AP) upstroke velocity, and AP duration. Acute re-exposure did not impact on peak INa or AP upstroke velocity, but significantly decreased AP duration.

Conclusion
These findings demonstrate for the first time the therapeutic benefit of mexiletine in a human cardiomyocyte model of SCN5A overlap syndrome.
Electrocardiographic parameters and the risk of new-onset atrial fibrillation in the general population: the Rotterdam Study
Authors: Geurts Sven , Tilly Martijn J , Kors Jan A , Deckers Jaap W , Stricker Bruno H C , de Groot Natasja M S , Ikram M Arfan , Kavousi Maryam 
Published: June 2023

Abstract

Aims
We aimed to assess the (shape of the) association and sex differences in the link between electrocardiographic parameters and new-onset atrial fibrillation (AF).

Methods and results
A total of 12 212 participants free of AF at baseline from the population-based Rotterdam Study were included. Up to five repeated measurements of electrocardiographic parameters including PR, QRS, QT, QT corrected for heart rate (QTc), JT, RR interval, and heart rate were assessed at baseline and follow-up examinations. Cox proportional hazards- and joint models, adjusted for cardiovascular risk factors, were used to determine the (shape of the) association between baseline and longitudinal electrocardiographic parameters with new-onset AF. Additionally, we evaluated potential sex differences. During a median follow-up of 9.3 years, 1282 incident AF cases occurred among 12 212 participants (mean age 64.9 years, 58.2% women). Penalized cubic splines revealed that associations between baseline electrocardiographic measures and risk of new-onset AF were generally U- and N-shaped. Sex differences in terms of the shape of the various associations were most apparent for baseline PR, QT, QTc, RR interval, and heart rate in relation to new-onset AF. Longitudinal measures of higher PR interval [fully adjusted hazard ratio (HR), 95% confidence interval (CI), 1.43, 1.02–2.04, P = 0.0393] and higher QTc interval (fully adjusted HR, 95% CI, 5.23, 2.18–12.45, P = 0.0002) were significantly associated with new-onset AF, in particular in men

Conclusion
Associations of baseline electrocardiographic measures and risk of new-onset AF were mostly U- and N-shaped. Longitudinal electrocardiographic measures of PR and QTc interval were significantly associated with new-onset AF, in particular among men.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function
Authors: Myers Scott J , Yuan Hongjie , Perszyk Riley E , Zhang Jing , Kim Sukhan , Nocilla Kelsey A , Allen James P , Bain Jennifer M , Lemke Johannes R , Lal Dennis , Benke Timothy A , Traynelis Stephen F 
Published: June 2023

Abstract
Advances in sequencing technology have generated a large amount of genetic data from patients with neurological conditions. These data have provided diagnosis of many rare diseases, including a number of pathogenic de novo missense variants in GRIN genes encoding N-methyl-d-aspartate receptors (NMDARs). To understand the ramifications for neurons and brain circuits affected by rare patient variants, functional analysis of the variant receptor is necessary in model systems. For NMDARs, this functional analysis needs to assess multiple properties in order to understand how variants could impact receptor function in neurons. One can then use these data to determine whether the overall actions will increase or decrease NMDAR-mediated charge transfer. Here, we describe an analytical and comprehensive framework by which to categorize GRIN variants as either gain-of-function (GoF) or loss-of-function (LoF) and apply this approach to GRIN2B variants identified in patients and the general population. This framework draws on results from six different assays that assess the impact of the variant on NMDAR sensitivity to agonists and endogenous modulators, trafficking to the plasma membrane, response time course and channel open probability. We propose to integrate data from multiple in vitro assays to arrive at a variant classification, and suggest threshold levels that guide confidence. The data supporting GoF and LoF determination are essential to assessing pathogenicity and patient stratification for clinical trials as personalized pharmacological and genetic agents that can enhance or reduce receptor function are advanced. This approach to functional variant classification can generalize to other disorders associated with missense variants.
CRISPR single base-editing: in silico predictions to variant clonal cell lines
Authors: Dickson Kristie-Ann , Field Natisha , Blackman Tiane , Ma Yue , Xie Tao , Kurangil Ecem , Idrees Sobia , Rathnayake Senani N H , Mahbub Rashad M , Faiz Alen , Marsh Deborah J 
Published: June 2023

Abstract
Engineering single base edits using CRISPR technology including specific deaminases and single-guide RNA (sgRNA) is a rapidly evolving field. Different types of base edits can be constructed, with cytidine base editors (CBEs) facilitating transition of C-to-T variants, adenine base editors (ABEs) enabling transition of A-to-G variants, C-to-G transversion base editors (CGBEs) and recently adenine transversion editors (AYBE) that create A-to-C and A-to-T variants. The base-editing machine learning algorithm BE-Hive predicts which sgRNA and base editor combinations have the strongest likelihood of achieving desired base edits. We have used BE-Hive and TP53 mutation data from The Cancer Genome Atlas (TCGA) ovarian cancer cohort to predict which mutations can be engineered, or reverted to wild-type (WT) sequence, using CBEs, ABEs or CGBEs. We have developed and automated a ranking system to assist in selecting optimally designed sgRNA that considers the presence of a suitable protospacer adjacent motif (PAM), the frequency of predicted bystander edits, editing efficiency and target base change. We have generated single constructs containing ABE or CBE editing machinery, an sgRNA cloning backbone and an enhanced green fluorescent protein tag (EGFP), removing the need for co-transfection of multiple plasmids. We have tested our ranking system and new plasmid constructs to engineer the p53 mutants Y220C, R282W and R248Q into WT p53 cells and shown that these mutants cannot activate four p53 target genes, mimicking the behaviour of endogenous p53 mutations. This field will continue to rapidly progress, requiring new strategies such as we propose to ensure desired base-editing outcomes.
Dealing With the Past for a Peaceful Future? Analysing the Effect of Transitional Justice Instruments on Trust in Postconflict Societies
Authors: Fiedler Charlotte , Mross Karina 
Published: June 2023

ABSTRACT
Can dealing with a history of violent conflict through transitional justice help to rebuild social trust? Addressing three gaps in the current literature, we (1) analyse the effect of transitional justice on social trust, thereby going beyond the predominant focus on renewed violence; (2) use novel, handcoded data to take donor support for transitional justice into account, a relevant but mostly overlooked factor; and (3) systematically investigate the combined effect of transitional justice instruments using qualitative comparative analysis. The analysis covers 24 cases in 19 postconflict countries over the period 1990–2010. Our results indicate that transitional justice needs to go beyond a narrow focus on victims or perpetrators to foster trust in postconflict societies. We find that combining victim restitution with amnesties or taking a broader, societal approach by focusing on truth-finding or bridge-building activities can increase trust. Moreover, international transitional justice support can play an important role in fostering trust, even in the absence of major national transitional justice processes.
Toward a Better Understanding of Medieval Temple Food Practices: The View from Srirangam
Authors: Gutiérrez Andrea 
Published: June 2023

Abstract
Vaishnava food offerings provide abundant evidence for material studies on both historical and modern-day ritual practice. The medieval Chola (9th–13th centuries) record of donative inscriptions offers us a wealth of details on the food cooked as naivedya or holy food offerings for temple deities. I present a range of ideas on material temple food and related food practices as gleaned from Tamil epigraphy and other Sanskrit sources, especially utilising evidence from the Srirangam temple dedicated to the reclining Vishnu, a main site of Vaishnava devotion. This article is a scholarly intervention on some key phenomena often misunderstood when considering South Indian food: controversies surrounding eating naivedya and food offerings, historical developments leading to the practice of eating temple prasad, the true ‘sambhar’ offered in Hindu temples, who cooked temple food, and where this happened. All aspects shed light on our understanding of Hindu religious practices involving food.
Research on ontology construction of traditional Chinese handmade paper: Take Kaihua paper as an example
Authors: Cai Mengling 
Published: June 2023

Abstract
Digital technology has broadened the research methods in the field of cultural heritage protection, and promoted the online organization and utilization of different resources. New digital technology is used to further explore the resources related to traditional Chinese handmade paper (TCHP) in order to comprehensively and systematically realize the knowledge association of different types of handmade paper. In this article, the characteristics of TCHP are combined to existing mature and generic ontologies to design a new ontology model of TCHP, and Protégé software is used to construct the visual ontology. The model is verified by analyzing the digital resources of Kaihua paper. Constructing the ontology of TCHP can realize the knowledge organization and visual presentation of related resources, and also promote the further utilization of the resources and wider spread of the culture of TCHP.
Source counts at 7.7–21 μm in CEERS field with JWST
Authors: Wu Cossas K-W , Ling Chih-Teng , Goto Tomotsugu , Kim Seong Jin , Hashimoto Tetsuya , Kilerci Ece , Lin Yu-Wei , Wang Po-Ya , Uno Yuri , Ho Simon C-C , Hsiao Tiger Yu-Yang 
Published: June 2023

ABSTRACT
Source counts – the number density of sources as a function of flux density – represent one of the fundamental metrics in observational cosmology due to their straightforward and simple nature. It is an important tool that provides information on galaxy formation and evolution. Source counting is a direct measurement. Compared to advanced analyses that require more observational input such as luminosity/mass functions, it is less affected by any cosmological parameter assumptions or any errors propagated from luminosities. In this study, we present source counts at the six mid-infrared (MIR) bands, i.e. 7.7, 10, 12.8, 15, 18, and 21 μm from the MIR instrument of the JWST. Contrasted with the infrared source counts achieved by prior generations of infrared space telescopes, our source counts delve up to ∼100 times deeper, showcasing the exceptional sensitivity of the JWST, and aligning with the model predictions based on preceding observations. In a follow-up study, we utilize our source counts to establish a new IR galaxy population evolutionary model that provides a physical interpretation.
Fast and not-so-furious: Case study of the fast and faint Type IIb SN 2021bxu
Authors: Desai Dhvanil D , Ashall Chris , Shappee Benjamin J , Morrell Nidia , Galbany Lluís , Burns Christopher R , DerKacy James M , Hinkle Jason T , Hsiao Eric , Kumar Sahana , Lu Jing , Phillips Mark M , Shahbandeh Melissa , Stritzinger Maximilian D , Baron Eddie , Bersten Melina C , Brown Peter J , de Jaeger Thomas , Elias-Rosa Nancy , Folatelli Gastón , Huber Mark E , Mazzali Paolo , Müller-Bravo Tomás E , Piro Anthony L , Polin Abigail , Suntzeff Nicholas B , Anderson Joseph P , Chambers Kenneth C , Chen Ting-Wan , de Boer Thomas , Fulton Michael D , Gao Hua , Gromadzki Mariusz , Inserra Cosimo , Magnier Eugene A , Nicholl Matt , Ragosta Fabio , Wainscoat Richard , Young David R 
Published: June 2023

ABSTRACT
We present photometric and spectroscopic observations and analysis of SN 2021bxu (ATLAS21dov), a low-luminosity, fast-evolving Type IIb supernova (SN). SN 2021bxu is unique, showing a large initial decline in brightness followed by a short plateau phase. With $M_r = -15.93 \pm 0.16\, \mathrm{mag}$ during the plateau, it is at the lower end of the luminosity distribution of stripped-envelope supernovae (SE-SNe) and shows a distinct ∼10 d plateau not caused by H- or He-recombination. SN 2021bxu shows line velocities which are at least $\sim 1500\, \mathrm{km\, s^{-1}}$ slower than typical SE-SNe. It is photometrically and spectroscopically similar to Type IIb SNe during the photospheric phases of evolution, with similarities to Ca-rich IIb SNe. We find that the bolometric light curve is best described by a composite model of shock interaction between the ejecta and an envelope of extended material, combined with a typical SN IIb powered by the radioactive decay of 56Ni. The best-fitting parameters for SN 2021bxu include a 56Ni mass of $M_{\mathrm{Ni}} = 0.029^{+0.004}_{-0.005}\, \mathrm{{\rm M}_{\odot }}$, an ejecta mass of $M_{\mathrm{ej}} = 0.61^{+0.06}_{-0.05}\, \mathrm{{\rm M}_{\odot }}$, and an ejecta kinetic energy of $K_{\mathrm{ej}} = 8.8^{+1.1}_{-1.0} \times 10^{49}\, \mathrm{erg}$. From the fits to the properties of the extended material of Ca-rich IIb SNe we find a trend of decreasing envelope radius with increasing envelope mass. SN 2021bxu has MNi on the low end compared to SE-SNe and Ca-rich SNe in the literature, demonstrating that SN 2021bxu-like events are rare explosions in extreme areas of parameter space. The progenitor of SN 2021bxu is likely a low-mass He star with an extended envelope.
Nickle-cobalt alloy nanocrystals inhibit activation of inflammasomes
Authors: Lin Jun , Dong Liang , Liu Yi-Ming , Hu Yi , Jiang Chen , Liu Ke , Liu Liu , Song Yong-Hong , Sun Mei , Xiang Xing-Cheng , Qu Kun , Lu Yang , Wen Long-Ping , Yu Shu-Hong 
Published: June 2023

ABSTRACT
Activation of inflammasomes—immune system receptor sensor complexes that selectively activate inflammatory responses—has been associated with diverse human diseases, and many nanomedicine studies have reported that structurally and chemically diverse inorganic nanomaterials cause excessive inflammasome activation. Here, in stark contrast to reports of other inorganic nanomaterials, we find that nickel-cobalt alloy magnetic nanocrystals (NiCo NCs) actually inhibit activation of NLRP3, NLRC4 and AIM2 inflammasomes. We show that NiCo NCs disrupt the canonical inflammasome ASC speck formation process by downregulating the lncRNA Neat1, and experimentally confirm that the entry of NiCo NCs into cells is required for the observed inhibition of inflammasome activation. Furthermore, we find that NiCo NCs inhibit neutrophil recruitment in an acute peritonitis mouse model and relieve symptoms in a colitis mouse model, again by inhibiting inflammasome activation. Beyond demonstrating a highly surprising and apparently therapeutic impact for an inorganic nanomaterial on inflammatory responses, our work suggests that nickel- and cobalt-containing nanomaterials may offer an opportunity to design anti-inflammatory nanomedicines for the therapeutics of macrophage-mediated diseases.
Guideline Concordance of Treatment and Outcomes Among Adult Non-Hodgkin Lymphoma Patients in Sub-Saharan Africa: A Multinational, Population-Based Cohort
Authors: Mezger Nikolaus Christian Simon , Hämmerl Lucia , Griesel Mirko , Seraphin Tobias Paul , Joko-Fru Yvonne Walburga , Feuchtner Jana , Zietsman Annelle , Péko Jean-Félix , Tadesse Fisihatsion , Buziba Nathan Gyabi , Wabinga Henry , Nyanchama Mary , Chokunonga Eric , Kéita Mamadou , N’da Guy , Lorenzoni Cesaltina Ferreira , Akele-Akpo Marie-Thérèse , Mezger Jörg Michael , Binder Mascha , Liu Biying , Bauer Marcus , Henke Oliver , Jemal Ahmedin , Kantelhardt Eva Johanna 
Published: June 2023

Abstract

Background
Although non-Hodgkin lymphoma (NHL) is the 6th most common malignancy in Sub-Saharan Africa (SSA), little is known about its management and outcome. Herein, we examined treatment patterns and survival among NHL patients.

Methods
We obtained a random sample of adult patients diagnosed between 2011 and 2015 from 11 population-based cancer registries in 10 SSA countries. Descriptive statistics for lymphoma-directed therapy (LDT) and degree of concordance with National Comprehensive Cancer Network (NCCN) guidelines were calculated, and survival rates were estimated.

Findings
Of 516 patients included in the study, sub-classification was available for 42.1% (121 high-grade and 64 low-grade B-cell lymphoma, 15 T-cell lymphoma and 17 otherwise sub-classified NHL), whilst the remaining 57.9% were unclassified. Any LDT was identified for 195 of all patients (37.8%). NCCN guideline-recommended treatment was initiated in 21 patients. This corresponds to 4.1% of all 516 patients, and to 11.7% of 180 patients with sub-classified B-cell lymphoma and NCCN guidelines available. Deviations from guideline-recommended treatment were initiated in another 49 (9.5% of 516, 27.2% of 180). By registry, the proportion of all patients receiving guideline-concordant LDT ranged from 30.8% in Namibia to 0% in Maputo and Bamako. Concordance with treatment recommendations was not assessable in 75.1% of patients (records not traced (43.2%), traced but no sub-classification identified (27.8%), traced but no guidelines available (4.1%)). By registry, diagnostic work-up was in part importantly limited, thus impeding guideline evaluation significantly. Overall 1-year survival was 61.2% (95%CI 55.3%-67.1%). Poor ECOG performance status, advanced stage, less than 5 cycles and absence of chemo (immuno-) therapy were associated with unfavorable survival, while HIV status, age, and gender did not impact survival. In diffuse large B-cell lymphoma, initiation of guideline-concordant treatment was associated with favorable survival.

Interpretation
This study shows that a majority of NHL patients in SSA are untreated or undertreated, resulting in unfavorable survival. Investments in enhanced diagnostic services, provision of chemo(immuno-)therapy and supportive care will likely improve outcomes in the region.
The latest breakthrough on genetic characteristics of inflammatory bowel disease in Chinese and other East Asian ancestries
Authors: Gao Han , Liu Zhanju 
Published: June 2023

Abstract
Inflammatory bowel diseases (IBDs) are complex chronic disorders of the gastrointestinal tract with the following two subtypes: Crohn's disease and ulcerative colitis. Disease presentation and progression within and across IBDs, especially Crohn's disease, are highly heterogeneous in the location, severity of inflammation, intestinal stenosis and obstruction, and extraintestinal manifestations. Clinical classifications fail to accurately predict the disease course and response to therapies. To date, most IBD genetic associations are derived from individuals of European ancestries, leading to a limitation of the discovery and application of IBD genetics in the rest of the world populations. In this mini-review, we summarize the latest progress of genome-wide association studies of IBD across global ancestries especially the Chinese population, the similarities and differences in genetic architecture between European and East Asian ancestries, as well as, the clinical significances relevant to IBD genetic study.