bluuebunny/crossref_metadata_2025_split huggingface dataset:
An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies
Authors: Vu-Han Tu-Lan , Schettino Rodrigo Bermudez , Weiß Claudia , Perka Carsten , Winkler Tobias , Sunkara Vikram , Pumberger Matthias 
Published: May 2024

Abstract5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis development play a central role, however, remain difficult to anticipate. New approaches to anticipate disease progression and associated sequelae will be needed to continuously provide these patients the best standard of care. Here we developed an interpretable machine learning (ML) model that can function as an assistive tool in the anticipation of SMA-associated scoliosis based on disease progression markers. We collected longitudinal data from 86 genetically confirmed SMA patients. We selected six features routinely assessed over time to train a random forest classifier. The model achieved a mean accuracy of 0.77 (SD 0.2) and an average ROC AUC of 0.85 (SD 0.17). For class 1 ‘scoliosis’ the average precision was 0.84 (SD 0.11), recall 0.89 (SD 0.22), F1-score of 0.85 (SD 0.17), respectively. Our trained model could predict scoliosis using selected disease progression markers and was consistent with the radiological measurements. During post validation, the model could predict scoliosis in patients who were unseen during training. We also demonstrate that rare disease data sets can be wrangled to build predictive ML models. Interpretable ML models can function as assistive tools in a changing disease landscape and have the potential to democratize expertise that is otherwise clustered at specialized centers.
Proteome-wide Mendelian randomization identifies potential therapeutic targets for nonalcoholic fatty liver diseases
Authors: Li Junhang , Ma Xiang , Yin Cuihua 
Published: May 2024

AbstractNonalcoholic fatty liver disease (NAFLD) is the predominant cause of liver pathology. Current evidence highlights plasma proteins as potential therapeutic targets. However, their mechanistic roles in NAFLD remain unclear. This study investigated the involvement of specific plasma proteins and intermediate risk factors in NAFLD progression. Two-sample Mendelian randomization (MR) analysis was conducted to examine the association between plasma proteins and NAFLD. Colocalization analysis determined the shared causal variants between the identified proteins and NAFLD. The MR analysis was applied separately to proteins, risk factors, and NAFLD. Mediator shares were computed by detecting the correlations among these elements. Phenome-wide association studies (phewas) were utilized to assess the safety implications of targeting these proteins. Among 1,834 cis-protein quantitative trait loci (cis-pQTLs), after-FDR correction revealed correlations between the plasma levels of four gene-predicted proteins (CSPG3, CILP2, Apo-E, and GCKR) and NAFLD. Colocalization analysis indicated shared causal variants for CSPG3 and GCKR in NAFLD (posterior probability > 0.8). Out of the 22 risk factors screened for MR analysis, only 8 showed associations with NAFLD (p ≤ 0.05), while 4 linked to CSPG3 and GCKR. The mediator shares for these associations were calculated separately. Additionally, reverse MR analysis was performed on the pQTLs, risk factors, and NAFLD, which exhibited a causal relationship with forward MR analysis. Finally, phewas summarized the potential side effects of associated-targeting proteins, including CSPG3 and GCKR. Our research emphasized the potential therapeutic targets for NAFLD and provided modifiable risk factors for preventing NAFLD.
Aruba’s Tourism Resilience: Navigating Through Crises and Building a Diverse and Adaptive Industry
Authors: Ridderstaat Jorge R. 
Published: May 2024

Summary
The case study of Aruba’s tourism industry showcases how the island quickly bounces back from different crises, thanks to its varied tourist attractions, successful marketing as “One Happy Island,” and solid collaborations between the government and private sector. Aruba’s ability to adapt demonstrates its strength in facing challenges, making it a prime example for other economies heavily relying on tourism. The study details Aruba’s strategies in responding to tough times, such as economic slumps and the COVID-19 pandemic, highlighting the critical role played by offering a wide range of tourist activities, maintaining a solid brand identity, and working closely with partners to build a resilient tourism sector that can withstand hardships.

Information
© The Author 2024
Emerging γ-soft-like spectrum in 196Pt in the SU3-IBM (I)*
Authors: Wang 王 Tao 涛 , He 何 Bing-Cheng 秉承 , Zhou 周 Chun-Xiao 春晓 , Li 李 Dong-Kang 东康 , Fortunato Lorenzo 
Published: May 2024

Abstract
Recently, studies have argued that a spherical-like spectrum emerges in the SU3-IBM, thus creating new approaches to understanding γ-softness in realistic nuclei. In a previous study, γ-softness with degeneracy of the ground and quasi-γ bands was observed. In this paper, another special point connected to the middle degenerate point is discussed. It is found to be related to the properties of 196Pt. This emergent γ-softness is also shown to be important for understanding the prolate-oblate asymmetric shape phase transition. The low-lying spectra,

values, and quadrupole moments in 196Pt are discussed, and we show that the new model can account for several observed features. This is the first part of the discussion on the γ-soft-like spectrum of 196Pt.
New H i Observations Toward the NGC 5055 Galaxy Group with FAST
Authors: Liu Xiao-Lan , Zhu Ming , Xu Jin-Long , Jiang Peng , Zhang Chuan-Peng , Yu Nai-Ping , Wang Jun-Jie , Yang Yan-Bin 
Published: May 2024

Abstract
We report a new high-sensitivity H i mapping observation of the NGC 5055 galaxy group over an area of 1.°5 × 0.°75 with the Five-hundred-meter Aperture Spherical radio Telescope (FAST). Our observation reveals that the warped H i disk of NGC 5055 is more extended than what was previously observed by WSRT, out to 23.′9 (61.7 kpc). The total H i mass of NGC 5055 is determined to be ∼1.1 × 1010
M
⊙. We identified three H i clouds with H i masses of the order of ∼107
M
⊙ at the southeastern edge of the H i disk, as well as a candidate high-velocity cloud with an H i mass of (1.2 ± 0.5) × 106
M
⊙ to the north of NGC 5055. The H i content of UGCA 337 is robustly detected for the first time by the FAST observations. It has a narrow H i linewidth of W
50 = 17.4 ± 3.8 km s−1 with a total H i mass of (3.5 ± 0.3) × 106
M
⊙. Comparing the gas content and g−r color of UGCA 337 with typical low-mass dwarf galaxies, UGCA 337 appears relatively gas-poor despite its blue color. This suggests that UGCA 337 may have undergone gas stripping in the past. We also analyzed the possible origin of the diffuse H i clouds located at the outskirts of NGC 5055, and speculate that they might be the remnant features of a merger event in the past.
Metal-modulated epitaxy of Mg-doped Al0.80In0.20N-based layer for application as the electron blocking layer in deep ultraviolet light-emitting diodes
Authors: Solís-Cisneros Horacio Irán , Hernández-Gutiérrez Carlos Alberto , Campos-González Enrique , López-López Máximo 
Published: May 2024

Abstract
This work reports the growth and characterization of p-AlInN layers doped with Mg by plasma-assisted molecular beam epitaxy (PAMBE). AlInN was grown with an Al molar fraction of 0.80 by metal-modulated epitaxy (MME) with a thickness of 180 nm on Si(111) substrates using AlN as buffer layers. Low substrate temperatures were used to enhance the incorporation of indium atoms into the alloy without clustering, as confirmed by X-ray diffraction (XRD). Cathodoluminescence measurements revealed ultraviolet (UV) range emissions. Meanwhile, Hall effect measurements indicated a maximum hole mobility of 146 cm2/(V∙s), corresponding to a free hole concentration of 1.23 × 1019 cm−3. The samples were analyzed by X-ray photoelectron spectroscopy (XPS) estimating the alloy composition and extracting the Fermi level by valence band analysis. Mg-doped AlInN layers were studied for use as the electron-blocking layer (EBL) in LED structures. We varied the Al composition in the EBL from 0.84 to 0.96 molar fraction to assess its theoretical effects on electroluminescence, carrier concentration, and electric field, using SILVACO Atlas. The results from this study highlight the importance and capability of producing high-quality Mg-doped p-AlInN layers through PAMBE. Our simulations suggest that an Al content of 0.86 is optimal for achieving desired outcomes in electroluminescence, carrier concentration, and electric field.
Spinoza’s Hermeneutic Legacy
Authors: Gjesdal Kristin 
Published: May 2024

AbstractThis chapter discusses Spinoza’s legacy in modern philosophy of interpretation, especially in the works of Johann Gottfried Herder, Friedrich Schleiermacher, and Germaine de Staël. Departing from Spinoza’s sola scriptura principle—according to which interpretation of the Bible should have as its foundation the biblical text and not, for instance, some external philosophical standard—the chapter investigates to what degree hermeneutics can be extended to emancipatory political ends as we come to understand others. It devotes a section each to Herder, Schleiermacher, and Staël. The chapter also seeks to demonstrate that hermeneutics, as it develops in the aftermath of Spinoza, addresses the way we, as finite human beings, relate to others and ourselves.
The love of the past
Authors: Arnold Dana 
Published: May 2024

Abstract
This chapter considers the love of the past as a manifestation of architectural style. It argues that revivals and nostalgia are the two most enduring themes in British architecture. The use of past styles elaborates on the people’s understanding of British architecture and what it means to a diverse public. The chapter then provides an overview into the dominance of social elites who accumulated their wealth in a global context through colonization, slavery and the slave trade, and the appropriation of wealth by looting. It goes on to consider different interpretations of the country house.
The British abroad
Authors: Arnold Dana 
Published: May 2024

Abstract
This chapter discusses the influence of foreign architecture on British design and the influence of British architecture and architects abroad. It explores how the ever-expanding British exploration and colonization of the world influenced architectural design in Britain. Classical architecture is usually viewed as both metaphorically and physically predominantly ‘white’. However, the certainties about European culture and architecture have been unsettled with regard to its racial origins, the use of colour, and more broadly by notions of modernity. The chapter looks at how the architectural profession is becoming more diverse and inclusive as time goes on, in step with the population as a whole.
What language does British architecture speak?
Authors: Arnold Dana 
Published: May 2024

Abstract
This chapter elaborates on how architecture can project a British identity at home and abroad. It primarily focuses on international exhibitions, showing how architecture has morphed from being an expression of empire into an agent of soft power. In 1951 the Festival of Britain showcased collective and individual British achievements, and was intended as a visible sign of national confidence. The chapter provides further detail of the enduring legacy of international exhibitions and World’s Fairs as celebrations of Western colonialism and how these have changed tone since becoming World Expos in the mid-20th century. It then argues that British architecture will always remain in flux, vital and relevant.
Coronary CTA-based vascular radiomics predicts atherosclerosis development proximal to LAD myocardial bridging
Authors: Chen Yan Chun , Zheng Jin , Zhou Fan , Tao Xin Wei , Chen Qian , Feng Yun , Su Yun Yan , Zhang Yu , Liu Tongyuan , Zhou Chang Sheng , Tang Chun Xiang , Weir-McCall Jonathan , Teng Zhongzhao , Zhang Long Jiang 
Published: May 2024

Abstract

Aims
Cardiac cycle morphological changes can accelerate plaque growth proximal to myocardial bridging (MB) in the left anterior descending artery (LAD). To assess coronary computed tomography angiography (CCTA)-based vascular radiomics for predicting proximal plaque development in LAD MB.

Methods and results
Patients with repeated CCTA scans showing LAD MB without proximal plaque in index CCTA were included from Jinling Hospital as a development set. They were divided into training and internal testing in an 8:2 ratio. Patients from four other tertiary hospitals were set as external validation set. The endpoint was proximal plaque development of LAD MB in follow-up CCTA. Four vascular radiomics models were built: MB centreline (MB CL), proximal MB CL (pMB CL), MB cross-section (MB CS), and proximal MB CS (pMB CS), whose performances were evaluated using area under the receiver operating characteristic curve (AUC), integrated discrimination improvement (IDI), and net reclassification improvement (NRI). In total, 295 patients were included in the development (n = 192; median age, 54 ± 11 years; 137 men) and external validation sets (n = 103; median age, 57 ± 9 years; 57 men). The pMB CS vascular radiomics model exhibited higher AUCs in training, internal test, and external sets (AUC = 0.78, 0.75, 0.75) than the clinical and anatomical model (all P &lt; 0.05). Integration of the pMB CS vascular radiomics model significantly raised the AUC of the clinical and anatomical model from 0.56 to 0.75 (P = 0.002), along with enhanced NRI [0.76 (0.37–1.14), P &lt; 0.001] and IDI [0.17 (0.07–0.26), P &lt; 0.001] in the external validation set.

Conclusion
The CCTA-based pMB CS vascular radiomics model can predict plaque development in LAD MB.
Crossroads of assembling a moss genome: navigating contaminants and horizontal gene transfer in the moss Physcomitrellopsis africana
Authors: Vuruputoor Vidya S , Starovoitov Andrew , Cai Yuqing , Liu Yang , Rahmatpour Nasim , Hedderson Terry A , Wilding Nicholas , Wegrzyn Jill L , Goffinet Bernard 
Published: May 2024

Abstract
The first chromosome-scale reference genome of the rare narrow-endemic African moss Physcomitrellopsis africana (P. africana) is presented here. Assembled from 73 × Oxford Nanopore Technologies (ONT) long reads and 163 × Beijing Genomics Institute (BGI)-seq short reads, the 414 Mb reference comprises 26 chromosomes and 22,925 protein-coding genes [Benchmarking Universal Single-Copy Ortholog (BUSCO) scores: C:94.8% (D:13.9%)]. This genome holds 2 genes that withstood rigorous filtration of microbial contaminants, have no homolog in other land plants, and are thus interpreted as resulting from 2 unique horizontal gene transfers (HGTs) from microbes. Further, P. africana shares 176 of the 273 published HGT candidates identified in Physcomitrium patens (P. patens), but lacks 98 of these, highlighting that perhaps as many as 91 genes were acquired in P. patens in the last 40 million years following its divergence from its common ancestor with P. africana. These observations suggest rather continuous gene gains via HGT followed by potential losses during the diversification of the Funariaceae. Our findings showcase both dynamic flux in plant HGTs over evolutionarily “short” timescales, alongside enduring impacts of successful integrations, like those still functionally maintained in extant P. africana. Furthermore, this study describes the informatic processes employed to distinguish contaminants from candidate HGT events.
Depression and the Risk of Dementia and All-Cause Mortality Among Japanese Older Adults: A 9-Year Longitudinal Study From JAGES
Authors: Wu Shan , Zhong Xiangbin , Gong Yajie , Yao Yao , Shirai Kokoro , Kondo Katsunori , Wang Xinlei , Guan Liqi , Chen Qiqing , Liu Keyang , Li Yuting 
Published: May 2024

Abstract

Background
This study aims to investigate the association and dose–response relationship between depression, dementia, and all-cause mortality based on a national cohort study of older adults in Japan.

Methods
We conducted a longitudinal study of 44,546 participants ≥65 years from 2010–2019 Japanese Gerontological Evaluation Study. The Geriatric Depression Scale-15 was used to assess depressive symptoms and the long-term care insurance was used to assess dementia. Fine–Gray models and Cox proportional hazard models were used to explore the effect of depression severity on the incidence of dementia and all-cause mortality, respectively. Causal mediation analysis were used to explore the extent of association between dementia-mediated depression and all-cause mortality.

Results
We found that both minor and major depressive symptoms were associated with the increased cumulative incidence of dementia and all-cause mortality, especially major depressive symptoms (p &lt; .001). The multivariable-adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) for dementia were 1.25 (1.19–1.32) for minor depressive symptoms and 1.42 (1.30–1.54) for major depressive symptoms in comparison to non-depression; p for trend &lt; .001. The multivariable-adjusted HRs and 95% CIs for all-cause mortality were 1.27 (1.21–1.33) for minor depressive symptoms and 1.51 (1.41–1.62) for major depressive symptoms in comparison to non-depression; p for trend &lt; .001. Depression has a stronger impact on dementia and all-cause mortality among the younger group. In addition, dementia significantly mediated the association between depression and all-cause mortality.

Discussion
Interventions targeting major depression may be an effective strategy for preventing dementia and premature death.
#1154 Type I interferon pathway is upregulated in microscopic polyangiitis (vs granulomatosis with polyangiitis)
Authors: Brilland Benoit , Boizard-Moracchini Andrea , Tortevoie Nathalie , Piccoli Giorgina , Blanco Patrick , Delneste Yves , François Augusto Jean 
Published: May 2024

Abstract

Background and Aims
The two main types of ANCA-associated vasculitis (AAV), microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA), share common characteristics but also differ on many aspects (epidemiological, genetic, clinical, outcomes). These differences did not justify, to date, different patient management. To identify more specific targetable pathways, we characterized the kidney transcriptome of MPA vs. GPA patients with AAV-glomerulonephritis (AAV-GN).

Method
This retrospective study included adult patients with AAV-GN from the French Maine-Anjou Registry. Immune gene transcript analysis was performed on RNA extracted from 97 kidney biopsies using NanoString technology. Significant transcripts were examined to identify immune pathways of interest. We then used a publicly available dataset to explore these identified pathways (qPCR / ELISA).

Results
We compared kidney biopsies from GPA (n = 33) and MPA (n = 64) patients. There was no difference in eGFR between both groups at diagnosis. Of the 750 evaluated immune transcripts, 8 genes were found differentially expressed between MPA and GPA patients, all being upregulated in MPA (log2FC &gt; 1, q-value &lt; 0.05) (Fig. 1A). Seven (out of 8) genes belonged to the type I interferon (IFN-I) signaling pathway.
A personal analysis of unpublished, publicly available, data1 identified a significantly more pronounced IFN-I signature in the peripheral blood mononuclear cells of patients with MPO-AAV when compared to those with PR3-AAV (Fig. 1B). Serum levels or CXCL10, a cytokine that mediates immune responses through the recruitment and activation of numerous immune cells under the regulation of IFN-I, were found higher in MPO-AAV patients (Fig. 1C).

Conclusion
We identified a type I interferon signature, both in kidneys and in blood, in patients with MPA (or MPO-AAV) in comparison to GPA (or PR3-AAV). This is in line with previous lines of evidence brough by Kessenbrock et al. and Kessler et al. suggesting a role for IFN-I in AAV and especially in MPO-AAV. This signature may help gain a deeper understanding of the AAV-GN pathogenesis and provide insights for developing new therapeutic options.
#1121 Identification of kidney transcripts associated with prognosis in ANCA-associated glomerulonephritis
Authors: Brilland Benoit , Riou Jérémie , Boizard-Moracchini Andrea , Tortevoie Nathalie , Piccoli Giorgina , Assia Djema , Henry Nicolas , Copin Marie-Christine , Langlais David , Blanco Patrick , Delneste Yves , François Augusto Jean 
Published: May 2024

Abstract

Background and Aims
Kidney involvement in ANCA-associated vasculitis (AAV-GN) predicts poor patient and kidney survival. Deciphering the transcriptomic landscape in AAV-GN may provide insights into pathogenic mechanisms or identify biomarkers for refining diagnosis and/or prognosis, which would help stratify risk and tailor therapeutic management. We aimed to investigate the potential prognostic value of kidney transcripts associated with kidney survival.

Method
This study included adult patients with AAV-GN from the French Maine-Anjou Registry. Immune gene transcript analysis was performed on RNA extracted from 97 AAV-GN kidney biopsies using NanoString technology. Transcripts of interest were selected, and their prognostic performance was assessed with respect to current histological-based classifications. Following the identification of a possible role for clusterin (CLU), the relationship between serum CLU and prognosis was assessed.

Results
Among the 750 evaluated transcripts, we identified a 4-gene signature (XRCC6, PRKCD, TEK, and CLU) that was strongly associated with kidney survival (Fig. 1A). This signature predicted kidney survival better than histological-based classifications (global C-Index 0.87 vs. 0.65 for Berden classification or 0.81 for Renal Risk Score, with better time-dependent AUC and Brier scores, especially beyond 1 year after diagnosis) (Fig. 1B). Among these 4 transcripts, the expression level of the CLU transcript had the highest correlation with glomerular involvement, kidney function at diagnosis, and kidney survival. Serum CLU levels were associated with kidney survival, especially when assessed at 6 months from diagnosis (Fig. 1C, P = .023).

Conclusion
Transcriptomic analysis of kidney biopsies of AAV-GN identified potential transcripts that may improve prediction of kidney survival. This transcriptomic signature may help us gain a deeper understanding of the AAV-GN pathogenesis and provide insights for developing new therapeutic options.