bluuebunny/crossref_metadata_2025_split huggingface dataset:
Treatment selection in the clinical practice of systemic lupus erythematosus: Results from the Kyushu Collagen Disease Network for Systemic Lupus Erythematosus (KCDN-SLE) registry
Authors: Ayano Masahiro , Ueda Naoyasu , Mishima Koji , Ota Shun-Ichiro , Kushimoto Kazuo , Tanaka Atsushi , Kawano Shotaro , Nishimura Naoya , Kashiwado Yusuke , Doi Goro , Nakayama Tsuyoshi , Fukumoto Ryo , Tsuru Tomomi , Suzaki Midori , Akahoshi Mitsuteru , Maekawa Makiko , Omoto Aya , Tada Hitoshi , Akashi Koichi , Horiuchi Takahiko , Niiro Hiroaki 
Published: August 2024

ABSTRACT

Objectives
This study aimed to describe the treatment selection for systemic lupus erythematosus (SLE) using data from the Kyushu Collagen Disease Network for SLE (KCDN-SLE) registry, a multicentre prospective registry in Japan.

Methods
This study used data from patients registered between August 2022 and November 2023. Clinical characteristics, purpose of agent initiation, other candidate agents, and short-term efficacy and safety were evaluated.

Results
We analysed 69 previously treated patients with SLE (mean age 43.7 years; 62 females, 7 males). Hydroxychloroquine, biological agents, and immunosuppressive agents were initiated during the maintenance phase in 12, 41, and 16 patients, respectively. In patients with active organ involvement, hydroxychloroquine and biological agents were widely used for initiation. In those who already achieved treatment goals, biological agents alone were predominantly selected. The SLE Disease Activity Index 2000 score and prednisolone dose declined significantly over a 6-month follow-up period. Among 48 patients with active disease, 22 achieved a lupus low disease activity state, but this had no evident association with the initiation of a biological agent. In total, 14 adverse events, predominantly infections, were observed.

Conclusions
Biological agents were used preferentially, and the therapeutic agents were appropriately effective and mostly achieved the purpose of agent initiation.
Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review
Authors: Jain Harsh , Kartik S , Kumar Abhishek , Dwivedi Aradhana , Jayaprakash Sankar , Vasdev V , Chandwani Ashish 
Published: August 2024

ABSTRACT
Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described, and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene, and compound heterozygous variants in C1QA gene have rarely been reported. A majority of monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and antiribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab, and fresh frozen plasma with partial neurological recovery. Thus, we present a unique case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.
Metamorphic origin of large nuggets of platinum-group metals: evidence from multiphase inclusions in Os-Ir-Ru alloys from the Adamsfield placer, Tasmania
Authors: Kutyrev Anton , Kamenetsky Vadim S , Chayka Ivan F , Nekrylov Nikolai A , Kryuchkova Lyudmila , Shilovskikh Vladimir V , Kontonikas-Charos Alkiviadis , Krasheninnikov Stepan P , Sapegina Anna , Perchuk Alexei L 
Published: August 2024

Abstract
Platinum-group elements (PGE) are most effectively concentrated via sulfide-silicate melt immiscibility; however, under sulfide-undersaturated conditions, PGE may exhibit highly siderophile behavior and occur as native metals and alloys. In this case, they can form micrometer-size inclusions within Cr-spinel, but also large nuggets (up to several kilograms), found in chromitites and related placer deposits. The exact formation mechanism of such large nuggets and accumulations of PGE unrelated to sulfide melts remains controversial due to mass balance issues. In this study of multiphase inclusions in Os-Ir-Ru nuggets from the Adamsfield placer district (Tasmania, Australia), we constrain their crystallization environment. Multiphase inclusions comprise variable proportions of hornblende, enstatite, quartz, anthophyllite, anorthite, chlorite and native iridium and coexist with single-phase olivine and Cr-spinel inclusions. The heterogeneity in phase and chemical composition of the inclusions indicates a complex origin from an inhomogeneous source media. This is corroborated by grain scale disequilibrium mineral assemblages, where forsterite and quartz are both included within a single osmium grain. Our proposed multi-stage origin of Adamsfield Os-Ir-Ru nuggets involved magmatic olivine-Cr-spinel-Os-Ir-Ru cumulates in peridotite bodies that were subsequently overprinted by various hydrothermal and metamorphic processes, including serpentinization or growth of Os-Ir-Ru from supercritical fluids. The final metamorphic stage resulted in the obliteration of Os-Ir-Ru zonation, culminating in the current assemblage of inclusions.
MPK4-mediated phosphorylation of PHYTOCHROME INTERACTING FACTOR4 controls thermosensing by regulating histone variant H2A.Z deposition
Authors: Verma Neetu , Singh Dhanraj , Mittal Lavanya , Banerjee Gopal , Noryang Stanzin , Sinha Alok Krishna 
Published: August 2024

Abstract
Plants can perceive a slight upsurge in ambient temperature and respond by undergoing morphological changes, such as elongated hypocotyls and early flowering. The dynamic functioning of PHYTOCHROME INTERACTING FACTOR4 (PIF4) in thermomorphogenesis is well established, although the complete regulatory pathway involved in thermosensing remains elusive. We establish that an increase in temperature from 22 to 28 °C induces upregulation and activation of MITOGEN-ACTIVATED PROTEIN KINASE 4 (MPK4) in Arabidopsis (Arabidopsis thaliana), subsequently leading to the phosphorylation of PIF4. Phosphorylated PIF4 represses the expression of ACTIN-RELATED PROTEIN 6 (ARP6), which is required for mediating the deposition of histone variant H2A.Z at its target loci. Furthermore, we demonstrate that variations in ARP6 expression in PIF4 phosphor-null and phosphor-mimetic seedlings affect hypocotyl growth at 22 and 28 °C by modulating the regulation of ARP6-mediated H2A.Z deposition at the loci of genes involved in elongating hypocotyl cells. Interestingly, the expression of MPK4 is also controlled by H2A.Z deposition in a temperature-dependent manner. Taken together, these findings highlight the regulatory mechanism of thermosensing by which MPK4-mediated phosphorylation of PIF4 affects ARP6-mediated H2A.Z deposition at the genes involved in hypocotyl cell elongation.
The feasibility and acceptability of an inoculative intervention video for gambling advertising: a focus group study of academics and experts-by-experience
Authors: Torrance Jamie , Heath Conor , O’Hanrahan Marie , Newall Philip 
Published: August 2024

Abstract

Background
Gambling advertising employs a range of persuasive strategies. We therefore aimed to evaluate a counter-advertising intervention video to increase resilience to gambling advertising persuasion.

Methods
Three in-depth focus groups were conducted, and each group contained a mixture of gambling-related academics (N = 12) and experts with lived experience of gambling-related harm (N = 10). Participants were given access to the intervention video and provided feedback during the focus groups. Qualitative data were audio recorded and thematically analysed by the research team.

Results
Three main themes were identified. First, participants recommended a shorter video that had a simplified and digestible structure. Second, frequent real-world examples of gambling advertisements within the video were discouraged, and the inclusion of a relatable human voiceover was considered imperative to the receptiveness of the video. Finally, participants deemed it important to deliver psychologically grounded yet jargon-free content via a conversational style. An overall narrative framed by consumer-protection was also preferred in order to increase acceptance of the video content, rather than a more didactic framing.

Conclusions
Evaluating the acceptability of a counter advertising intervention video provided valuable insight from both an academic and lived-experience perspective. Such insight is instrumental to the meaningful co-design of counter-advertising interventions.
Interferometric image reconstruction using closure invariants and machine learning
Authors: Thyagarajan Nithyanandan , Hoefs Lucas , Wong O Ivy 
Published: August 2024

Abstract
Interferometric closure invariants encode calibration-independent details of an object’s morphology. Excepting simple cases, a direct backward transformation from closure invariants to morphologies is not well established. We demonstrate using simple Machine Learning models that closure invariants can aid in morphological classification and parameter estimation. We consider six phenomenologically parametrized morphologies: point-like, uniform circular disc, crescent, dual disc, crescent with elliptical accretion disc, and crescent with double jet lobes. Using logistic regression (LR), multilayer perceptron (MLP), and random forest models on closure invariants obtained from a sparsely covered aperture, we find that all methods except LR can classify morphologies with $\gtrsim$80 per cent accuracy, which improves with greater aperture coverage. Separately from the classification problem, given an independently confirmed class, we estimate parameters of uniform circular disc, crescent, and dual disc morphologies using simple MLP models, and parametrically reconstruct images. The estimated parameters and images correspond well with inputs, but the accuracy worsens when degeneracies between parameters are present. This independent approach to interferometric imaging under challenging observing conditions such as that faced by the Event Horizon Telescope and Very Long Baseline Interferometry, in general, can complement other methods in robustly constraining an object’s morphology.
Age‐related mitophagy regulates orthodontic tooth movement by affecting PDLSCs mitochondrial function and RANKL/OPG
Authors: Yan Tong , Li Huilin , Yan Jiayin , Ma Siyuan , Tan Jiali 
Published: August 2024

AbstractA thorough comprehension of age‐related variances in orthodontic tooth movement (OTM) and bone remodeling response to mechanical force holds significant implications for enhancing orthodontic treatment. Mitophagy plays a crucial role in bone metabolism and various age‐related diseases. However, the impact of mitophagy on the bone remodeling process during OTM remains elusive. Using adolescent (6 weeks old) and adult (12 months old) rats, we established OTM models and observed that orthodontic force increased the expression of the mitophagy proteins PTEN‐induced putative kinase 1 (PINK1) and Parkin, as well as the number of tartrate‐resistant acid phosphatase‐positive osteoclasts and osteocalcin‐positive osteoblasts. These biological changes were found to be age‐related. In vitro, compression force loading promoted PINK1/Parkin‐dependent mitophagy in periodontal ligament stem cells (PDLSCs) derived from adolescents (12–16 years old) and adults (25–35 years old). Furthermore, adult PDLSCs exhibited lower levels of mitophagy, impaired mitochondrial function, and a decreased ratio of RANKL/OPG compared to young PDLSCs after compression. Transfection of siRNA confirmed that inhibition of mitophagy in PDLSC resulted in decreased mitochondrial function and reduced RANKL/OPG ratio. Application of mitophagy inducer Urolithin A enhanced bone remodeling and accelerated OTM in rats, while the mitophagy inhibitor Mdivi‐1 had the opposite effect. These findings indicate that force‐stimulated PDLSC mitophagy contributes to alveolar bone remodeling during OTM, and age‐related impairment of mitophagy negatively impacts the PDLSC response to mechanical stimulus. Our findings enhance the understanding of mitochondrial mechanotransduction and offer new targets to tackle current clinical challenges in orthodontic therapy.
Real-World Validation of Coregistration and Structured Reporting for Magnetic Resonance Imaging Monitoring in Multiple Sclerosis
Authors: Rose Kevin , Mohtarif Ichem , Kerdraon Sébastien , Deverdun Jeremy , Leprêtre Pierre , Ognard Julien 
Published: August 2024

Objective
The objectives of this research were to assess the effectiveness of computer-assisted detection reading (CADR) and structured reports in monitoring patients with multiple sclerosis (MS) and to evaluate the role of radiology technicians in this context.

Methods
Eighty-seven patients with MS who underwent at least 2 sequential magnetic resonance imaging (MRI) follow-ups analyzed by 2 radiologists and a technician. Progression of disease (POD) was identified through the emergence of T2 fluid-attenuated inversion recovery white matter hyperintensities or contrast enhancements and evaluated both qualitatively (progression vs stability) and quantitatively (count of new white matter hyperintensities).

Results
CADR increased the accuracy by 11%, enhancing interobserver consensus on qualitative progression and saving approximately 2 minutes per examination. Although structured reports did not improve these metrics, it may improve clinical communication and permit technicians to achieve approximately 80% accuracy in MRI readings.

Conclusions
The use of CADR improves the accuracy, agreement, and interpretation time in MRI follow-ups of MS. With the help of computer tools, radiology technicians could represent a significant aid in the follow-up of these patients.
Distinct lateral prefrontal regions are organized in an anterior-posterior functional gradient
Authors: Tan Pin Kwang , Tang Cheng , Herikstad Roger , Pillay Arunika , Libedinsky Camilo 
Published: August 2024

AbstractThe dorsolateral prefrontal cortex (DLPFC) is composed of multiple anatomically-defined regions involved in higher-order cognitive processes, including working memory and selective attention. It is organized in an anterior-posterior global gradient, where posterior regions track changes in the environment, while anterior regions support abstract neural representations. However, whether the global gradient results from a smooth gradient that spans regions, or an overall trend emerging from the organized arrangement of functionally distinct regions is unknown. Here, we provide evidence to support the latter, by analyzing single-neuron activity along the DLPFC of non-human primates trained to perform a memory-guided saccade task with an interfering distractor. Additionally, we show that the posterior DLPFC plays a particularly important role in working memory, in sharp contrast with the lack of task-related responses in the anterior DLPFC. Our results validate the functional boundaries between anatomically-defined DLPFC regions and highlight the heterogeneity of functional properties across regions.
Global gene-expression analysis reveals the molecular processes underlying ClC-5 loss-of-function in novel Dent Disease 1 cellular models
Authors: Durán Mónica , Burballa Carla , Cantero-Recasens Gerard , Butnaru Cristian , Malhotra Vivek , Ariceta Gema , Sarró Eduard , Meseguer Anna 
Published: August 2024

AbstractDent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria (LMWP) and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis with progression to chronic kidney disease (CKD). Although loss-of-function mutations in the geneCLCN5encoding the electrogenic Cl−/H+antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype correlation and their contribution to proximal tubule dysfunction remains unclear. Here, in order to discover the mechanisms leading to proximal tubule dysfunction due to ClC-5 loss-of-function, we have generated and characterized new human cellular models of DD1 by silencingCLCN5and introducing the ClC-5 pathogenic mutants V523del, E527D and I524K into the human proximal tubule-derived cell line RPTEC/TERT1. Depletion ofCLCN5or expression of mutant ClC-5 impairs albumin endocytosis, increases substrate adhesion and decreases collective migration, which correlates with a less differentiated epithelial phenotype. Interestingly, although all conditions compromised the endocytic capacity in a similar way, their impact on gene expression profiles was different. Our DNA microarray studies show that ClC-5 silencing or mutant re-introduction alter pathways related to nephron development, anion homeostasis, organic acid transport, extracellular matrix organization and cell migration, compared to control cells. Cells carrying the V523del ClC-5 mutation show the largest differences in gene expression vs WT cells, which is in agreement with the more aggressive clinical phenotype observed in some DD1 patients. Overall, this work emphasizes the use of human proximal tubule derived cell models to identify the molecular processes underlying ClC-5 deficiency.
The increasing trend of Non-Communicable Diseases among young adults may invite multiple public health challenges in the future
Authors: Biswas Ashis , Roy Sharmistha 
Published: August 2024

AbstractObjectiveTo compare the burden of communicable and non-communicable diseases (NCDs) in the USA and globally, particularly among 15-45 years old.MethodsThe imported data from the WHO Mortality Database portal was analyzed by SPSS.ResultsThe study shows the percentage of death from NCDs out of total death in the USA in 2010 and 2019 were 86.7% and 86.8% which are higher than global rates of 78.1% and 80.2%. Despite a similar death percentage out of total death, the death rate due to NCDs increased from 601.04/100,000 (2010) to 687.99/100,000 (2019) and 790.29/100,000 (2020) globally; and from 693.60/100,000 (2010) to 753.35/100000 (2019) and 795.78/100000 (2020) in the USA. On the other hand, the death rate from communicable diseases were 56.57/100000, 55.52/100000, and 129.47/100000 globally; and 44.63/100000, 43.20/100000, and 151.99/100000 in the USA in the respective years. Young adults of 15-45 years show a higher NCD death rate in the USA with an increasing trend.ConclusionThe USA has a higher NCDs dependent mortality rate relative to the global mortality rate, particularly among the 15-45 years age group. During the COVID-19 pandemic, the relative raising in the communicable disease death rate indicates an interplay between communicable and NCDs.
An EYA3/NF-κB/CCL2 signaling axis suppresses cytotoxic NK cells in the pre-metastatic niche to promote triple negative breast cancer metastasis
Authors: Rosenbaum Sheera R. , Hughes Connor J. , Fields Kaiah M. , Purdy Stephen Connor , Gustafson Annika , Wolin Arthur , Hampton Drake , Turner Nicholas , Ebmeier Christopher , Costello James C. , Ford Heide L. 
Published: August 2024

AbstractPatients with Triple Negative Breast Cancer (TNBC) exhibit high rates of metastases and poor prognoses. The Eyes absent (EYA) family of proteins are developmental transcriptional cofactors/phosphatases that are re-expressed and/or upregulated in numerous cancers. Herein, we demonstrate that EYA3 correlates with decreased survival in breast cancer, and that it strongly, and specifically, regulates metastasis via a novel mechanism that involves NF-kB signaling and an altered innate immune profile at the pre-metastatic niche (PMN).Remarkably, restoration of NF-kB signaling downstream ofEya3knockdown (KD) restores metastasiswithoutrestoring primary tumor growth, isolating EYA3/NF-kB effects to the metastatic site. We show that secreted CCL2, regulated downstream of EYA3/NF-kB, specifically decreases cytotoxic NK cells in the PMN and that re-expression ofCcl2inEya3-KD cells is sufficient to rescue activation/levels of cytotoxic NK cellsin vitro andat the PMN, where EYA3-mediated decreases in cytotoxic NK cells are required for metastatic outgrowth.Importantly, analysis of public breast cancer datasets uncovers a significant correlation of EYA3 with NF-kB/CCL2, underscoring the relevance of EYA3/NF-kB/CCL2 to human disease. Our findings suggest that inhibition of EYA3 could be a powerful means to re-activate the innate immune response at the PMN, inhibiting TNBC metastasis.SignificanceEYA3 promotes metastasis of TNBC cells by promoting NF-kB-mediated CCL2 expression and inhibiting cytotoxic NK cells at the pre-metastatic niche, highlighting a potential therapeutic target in this subset of breast cancer.
Dysregulation of cholesterol and bile acid homeostasis across the gut-liver axis followingCryptosporidiumintestinal infection
Authors: Wang Shuhong , Gong Ai-Yu , Barker Edward , Williams David L. , Forsyth Christopher , Yu Liqing , Chen Xian-Ming 
Published: August 2024

AbstractCryptosporidiumspp., an apicomplexan protozoan, is one of the most common pathogens responsible for moderate-to-severe diarrhea in children under 2-year-old and an important opportunistic pathogen for patients with AIDS. There are no effective vaccines and therapy available. Infection in children is associated with malnutrition, growth defect and even impaired cognitive development but underlying mechanisms remain unclear. We report here thatC. parvuminfection in neonatal mice impairs bile acid reabsorption in the ileum and disturbs lipid metabolism in the liver and bile acid homeostasis in the enterohepatic circulation. Reduction of bile acid pool further impairs lipid absorption in the small intestine. Moreover, replenishing bile prevents decrease of lipid absorption in the infected neonatal mice. Strikingly, bile gavage significantly reduces the infection burden and ameliorates the dysregulated homeostasis of cell proliferation and migration in intestinal epithelium following infection. These findings may guide novel therapeutic approaches for cryptosporidiosis.
Targeting of retrovirus-derivedRtl8a/8breduces social response and increases apathy-like behavior associated with GABRB2 reduction
Authors: Fujioka Yoshifumi , Shiura Hirosuke , Ishii Masayuki , Ono Ryuichi , Endo Tsutomu , Kiyonari Hiroshi , Hirate Yoshikazu , Ito Hikaru , Kanai-Azuma Masami , Kohda Takashi , Kaneko-Ishino Tomoko , Ishino Fumitoshi 
Published: August 2024

AbstractRetrotransposon Gag-like (RTL) 8A, 8B and 8C are eutherian-specific genes derived from a certain retrovirus. They clustered as a triplet of genes on the X chromosome, but their function remains unknown. Here, we demonstrate that Rtl8a and Rtl8b play important roles in the brain: their double knockout (DKO) mice not only exhibit reduced social responses and increased apathy-like behavior, but also become obese from young adulthood. Mouse RTL8A/8B proteins are expressed in the prefrontal cortex and hypothalamus and localize to both the nucleus and cytoplasm of neurons, presumably due to the N-terminal nuclear localization signal-like sequence at the N-terminus. An RNAseq study in the cerebral cortex revealed reduced expression of several GABA type A receptor subunits, in particular the β2 subunit of Gabrb2, in DKO. We confirmed the reduction of GABRB2 protein in the DKO cerebral cortex by Western blotting. As GABRB2 has been implicated in the etiology of several neurodevelopmental disorders, it is likely that the reduction of GABRB2 is one of the major causes of the neuropsychiatric defects in the DKO mice.