bluuebunny/crossref_metadata_2025_split huggingface dataset:
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
Authors: Nosková Lenka , Fukata Yuko , Stránecký Viktor , Šaligová Jana , Bodnárová Oxana , Giertlová Mária , Fukata Masaki , Kmoch Stanislav 
Published: October 2023

Abstract
Pathogenic variants of ADAM22 affecting either its biosynthesis and/or its interactions with either LGI1 and/or PSD-95 have been recently identified in individuals with developmental and epileptic encephalopathy. Here, we describe a girl with seizures, delayed psychomotor development, and behavioural disorder, carrying a homozygous variant in ADAM22 (NM_021723.5:c.2714C &gt; T). The variant has a surprisingly high frequency in the Roma population of the Czech and Slovak Republic, with 11 of 213 (∼5.2%) healthy Roma individuals identified as heterozygous carriers. Structural in silico characterization revealed that the genetic variant encodes the missense variant p.S905F, which localizes to the PDZ-binding motif of ADAM22. Studies in transiently transfected mammalian cells revealed that the variant has no effect on biosynthesis and stability of ADAM22. Rather, protein–protein interaction studies showed that the p.S905F variant specifically impairs ADAM22 binding to PSD-95 and other proteins from a family of membrane-associated guanylate kinases, while it has only minor effect on ADAM22–LGI1 interaction. Our study indicates that a significant proportion of epilepsy in patients of Roma ancestry may be caused by homozygous c.2714C &gt; T variants in ADAM22. The study of this ADAM22 variant highlights a novel pathogenic mechanism of ADAM22 dysfunction and reconfirms an essential role of interaction of ADAM22 with membrane-associated guanylate kinases in seizure protection in humans.
Normative Overlaps between China and the Liberal International Society: China’s Developmentalist Human Rights
Authors: Karmazin Aleš 
Published: October 2023

Abstract
When different entities (actors) accept a certain norm or a particular agreement about normative principles, they are likely to have an overlapping but not necessarily fully shared understanding of the given norm. This article theorises and assesses the strength of such normative overlaps in international politics. It conceptualises normative overlaps as normative congruences across and within political orders. It follows a norm’s connection to constitutional layers of political orders (congruences within orders) and the way these constitutional layers of political orders, among which the norm is shared, overlap (congruences across orders). To do so, it builds upon and interconnects the literature on norms, especially norm diffusion, and the English School and constructivist literature on the composition of international order. The theoretical framework is utilised to analyse how China fits into the liberal international society, especially when it comes to human rights (HR) and humanitarian protection. The effect of the normative overlaps in this realm is China’s active engagement with the liberal HR regime, however, without deeper convergence or socialisation. The limits of convergence are underpinned by significant differences between the Chinese developmentalist and liberal conceptions of the moral purpose of politics.
Longitudinal Associations of Social Support and Gait Speed Decline in Aging
Authors: Pollak Chava , Verghese Joe , Blumen Helena M 
Published: October 2023

Abstract

Background
Social support predicts functional and cognitive decline in aging. Yet, the associations between social support and gait speed decline—a functional vital sign—are not well understood. This study examined associations between social support and gait speed decline in aging.

Methods
Social support and gait data from 542 older adults without dementia were examined (mean age 76.1 ± 6.5 years). Baseline emotional support, tangible support, affectionate support, positive social interactions, and overall support from the Medical Outcomes Study Social Support Survey were the predictors of interest. Annual change in simple (normal pace walking) and complex (walking while reciting alternate letters of the alphabet) gait speed (cm/s) were the outcomes of interest. Linear mixed effects models examined associations between social support and gait speed decline, after adjusting for gender, race, depressive symptoms, overall cognition, and comorbidities.

Results
The mean annual change in gait speed was 1.8 cm/s during simple walking and 1.13 cm/s during complex walking. Tangible support was the only category of social support that predicted decline in simple and complex gait speed over a median follow-up of 3 years. The annual decline in gait speed was 0.51 cm/s (p = .008, 95% confidence intervals [CI] 0.13, 0.89) and 0.58 cm/s (p = .007, CI 0.16, 1.0) greater among those with low tangible support than in those with high tangible support during simple and complex walking, respectively.

Conclusions
Tangible support is a potentially modifiable risk factor for gait speed decline. Further study is needed to examine mechanisms behind the observed associations and the potential for intervention.
Temporal Dynamics of Epigenetic Aging and Frailty From Midlife to Old Age
Authors: Mak Jonathan K L , Karlsson Ida K , Tang Bowen , Wang Yunzhang , Pedersen Nancy L , Hägg Sara , Jylhävä Juulia , Reynolds Chandra A 
Published: October 2023

Abstract

Background
DNA methylation-derived epigenetic clocks and frailty are well-established biological age measures capturing different aging processes. However, whether they are dynamically linked to each other across chronological age remains poorly understood.

Methods
This analysis included 1 309 repeated measurements in 524 individuals aged 50–90 years from the Swedish Adoption/Twin Study of Aging. Frailty was measured using a validated 42-item frailty index (FI). Five epigenetic clocks were calculated, including 4 principal component (PC)-based clocks trained on chronological age (PCHorvathAge and PCHannumAge) and aging-related physiological conditions (PCPhenoAge and PCGrimAge), and a pace of aging clock (DunedinPACE). Using dual change score models, we examined the dynamic, bidirectional associations between each of the epigenetic clocks and the FI over age to test for potential causal associations.

Results
The FI exhibited a nonlinear, accelerated increase across the older adulthood, whereas the epigenetic clocks mostly increased linearly with age. For PCHorvathAge, PCHannumAge, PCPhenoAge, and PCGrimAge, their associations with the FI were primarily due to correlated levels at age 50 but with no evidence of a dynamic longitudinal association. In contrast, we observed a unidirectional association between DunedinPACE and the FI, where a higher DunedinPACE predicted a subsequent increase in the FI, but not vice versa.

Conclusions
Our results highlight a temporal order between epigenetic aging and frailty such that changes in DunedinPACE precede changes in the FI. This potentially suggests that the pace of aging clock can be used as an early marker of the overall physiological decline at system level.
The Media Use Model: A metatheoretical framework for media processes and effects
Authors: Hoewe Jennifer , Ewoldsen David R 
Published: October 2023

Abstract
The Media Use Model (MUM) presents a metatheoretical framework that aims to unify several existing theories of media processes and effects. It uses a constraint satisfaction approach to coherence to explain the dynamic relationship between a media consumer’s motivations, expectations, individual differences, and, primarily, their cognitive processing during media use. The MUM includes six propositions, which represent stages during which a media consumer’s existing processing constraints are taken into consideration during their selection, interpretation, and comprehension of media content. It allows for both spontaneous and deliberate processing that can result in coherence or incommensurability, which then predicts continued media use or a change in media selection, respectively. Within this metatheoretical framework, (in)coherence is presented as a continuum where media consumers may have different interpretations of the same media content, which can then be used to understand their responses to it.
The Earliest Danish Testimonies About the Theresienstadt Ghetto: Gathered in Sweden by the World Jewish Congress, April 1945
Authors: Tarabini Silvia Goldbaum 
Published: October 2023

Abstract
In April 1945, even before the Theresienstadt ghetto’s liberation, the World Jewish Congress (WJC) began to document the experiences of the Danish Jewish survivors who had been brought to safety in Sweden. Collecting lists of fellow prisoners still in the ghetto and telegrams to relatives, the organization also gathered some of the earliest known written testimonies from Danish survivors. Though the author has to date only uncovered a small sample set of twenty-two testimonies within the organization’s archival holdings, these testimonies shed light on Danish survivors’ fresh memories and impressions of Theresienstadt. When compared to later testimonies, they provide insight into the changing focuses and concerns of survivors. Additionally, the name lists that the survivors compiled add information about their networks in the ghetto, and the telegrams that survivors sent through the WJC reveal their urgent efforts to both convey and obtain further information from relatives and friends abroad. These sources, written before the war had ended, thus provide a compelling and raw glimpse into Danish survivors’ early memories of ghetto life in Theresienstadt.
Exploring Predictive Biomarkers of Relapse in Ulcerative Colitis: A Proteomics Approach
Authors: Assadsangabi Arash , Evans Caroline A , Corfe Bernard M , Lobo Alan J 
Published: October 2023

Abstract

Introduction and aims
Risk stratification of subjects with a history of inflammatory bowel disease (IBD) into those likely to relapse and those who will remain quiescent continues to be a significant challenge. The aim of this study was to investigate whether certain proteomic signature profiles or biomarkers during remission are associated with future disease relapse in patients with ulcerative colitis (UC).

Methods
Endoscopic rectal samples from patients with UC in clinical, endoscopic, and histological remission at index endoscopy were collected, as well as samplers from normal control individuals. The patients were stratified to early relapsers (ERs) if they developed clinical signs of UC flare within 6 months of index endoscopy or nonrelapsers (NRs) if there was no relapse after 36 months of follow-up. The pooled rectal samples from ERs, NRs, and control individuals were subjected to nano-liquid chromatography and tandem mass spectrometry as per standard iTRAQ (isobaric tags for relative and absolute quantitation) workflow methodology. Selected proteomics-yielded candidates were subjected to orthogonal validation via immunoblotting, in a biomarker discovery exercise.

Results
Sixty-one patients were included, of whom 8 had clinical relapse within 6 months from the index endoscopy, and 43 patients had no clinical symptoms of relapse within the 36-month follow-up period. Ten patients who had clinical signs of relapse between 6 and 36 months were excluded. Seventeen control individuals were also included. Soluble proteomics analyses between ERs, NRs, and control individuals revealed a series of upregulated and downregulated proteins. Following orthogonal validation, upregulated TRX (P = .001) and IGHA1 (P = .001) were observed in ERs relative to NRs.

Conclusions
Several novel candidate tissue biomarkers have been identified in this study, which could discriminate patients with UC at risk of early relapse from those in long-term sustained remission. Our findings may pave the way for pre-emptive UC disease monitoring and therapeutic decision making.
Associations of Fish and Fish Oil Consumption With Incident Inflammatory Bowel Disease: A Population-Based Prospective Cohort Study
Authors: Fu Jiaying , Chai Chengwei , Chen Lan , Cai Miao , Ai Baozhuo , Li Haitao , Yuan Jinqiu , Lin Hualiang , Zhang Zilong 
Published: October 2023

Abstract

Background
We examined the associations of fish and fish oil consumption with inflammatory bowel disease (IBD) incidence.

Patients and Methods
We conducted a longitudinal analysis based on the UK Biobank, a population-based prospective cohort. Dietary consumption of fish and fish oil was collected by questionnaire. IBD incident cases were identified through links to National Health Services datasets. Cox proportional hazards regression models were used to assess the associations between oily fish, nonoily fish, and fish oil intake and IBD incidence with adjustment for various confounding factors.

Results
A total of 265 839 participants free of IBD at baseline were included, and 1554 incident IBD cases were identified during an average follow-up of 11.8 years. In fully adjusted models, we found that compared with participants who never ate oily fish, those having &lt;1 serving/wk, 1 serving/wk, and &gt;1 serving/wk had 9% (hazard ratio [HR], 0.91; 95% confidence interval [CI], 0.77-1.08), 19% (HR, 0.81; 95% CI, 0.69-0.96), and 12% (HR, 0.88; 95% CI, 0.73-1.06) lower risks of IBD, respectively, albeit not all statistically significant. A significant association was found between fish oil intake and a reduced risk of IBD (HR, 0.84; 95% CI, 0.75-0.93). We found no significant associations for nonoily fish. In a subsample (n = 105 714) of participants with multiple subsequent dietary reviews, we also found a negative association between the frequency of fish oil intake over time and incident IBD (P trend &lt; .05).

Conclusions
Our findings indicate that oily fish and fish oil supplements might be protective factors against IBD.
On the Cohomology of GL(N) and Adjoint Selmer Groups
Authors: Tilouine Jacques , Urban Eric 
Published: October 2023

Abstract
We prove under certain conditions (local-global compatibility and vanishing of modulo $p$ cohomology), a generalization of a theorem of Galatius and Venkatesh. We consider the case of $\operatorname{\textsf{GL}}(N)$ over a CM field; we construct a Hecke-equivariant injection from the divisible group associated to the first fundamental group of a derived deformation ring to the Selmer group of the twisted dual adjoint motive with divisible coefficients and we identify its cokernel as the first Tate-Shafarevich group of this motive. Actually, we also construct similar maps for higher homotopy groups with values in exterior powers of Selmer groups, although with less precise control on their kernel and cokernel. By a result of Y. Cai generalizing previous results by Galatius-Venkatesh on the graded cohomology group of a locally symmetric space, our maps relate the (non-Eisenstein) localization of the graded cohomology group for a locally symmetric space to the exterior algebra of the Selmer group of the Tate dual of the adjoint representation. We generalize this to Hida families as well.
Comparison of the incidence of vancomycin-associated nephrotoxicity following the change from trough-guided dosing to AUC-guided doing using trough-only data
Authors: Yamada Yuto , Niwa Takashi , Ono Yurie , Yamada Shoya , Niwa Kyoko , Yasue Moeka , Yamamoto Taishi , Sumi Kazuyuki , Otsubo Manami , Kobayashi Ryo , Suzuki Akio 
Published: October 2023

Abstract

Objectives
Although use of AUC-guided vancomycin dosing was recommended in the revised 2020 consensus guideline, collection of multiple vancomycin serum samples to calculate AUC may cause clinical complications. AUC calculated from trough-only data (one-point AUC-guided dosing) has not been sufficiently validated. The aim of the present study was to compare the incidence of nephrotoxicity following the change from trough-guided to one-point AUC-guided dosing.

Methods
We conducted a single-centre, prospective cohort study to compare the incidence of nephrotoxicity between a trough-guided dosing group and one-point AUC-guided dosing group.

Results
One-point AUC-guided dosing significantly decreased the incidence of acute kidney injury (AKI) compared with trough-guided dosing (2.8% versus 17.4%, P = 0.002). Further, Kaplan–Meier plots for cumulative incidence of the AKI-free rate indicated that the onset of AKI was significantly longer in the one-point AUC-guided dosing group than in trough-guided dosing (HR, 6.5; 95% CI, 1.5–27.4; P = 0.011). Moreover, multivariate Cox proportional hazard analysis indicated that implementation of one-point AUC-guided dosing was a significant protective factor against the incidence of AKI (age-adjusted HR, 0.164; 95% CI, 0.04–0.69; P = 0.014).

Conclusions
Compared with trough concentration-guided dosing, AUC-guided dosing using one-point sampling markedly reduced the incidence of AKI, without additional serum sampling.
Systematic replication of smoking disease associations using survey responses and EHR data in the All of Us Research Program
Authors: Schlueter David J , Sulieman Lina , Mo Huan , Keaton Jacob M , Ferrara Tracey M , Williams Ariel , Qian Jun , Stubblefield Onajia , Zeng Chenjie , Tran Tam C , Bastarache Lisa , Dai Jian , Babbar Anav , Ramirez Andrea , Goleva Slavina B , Denny Joshua C 
Published: October 2023

Abstract

Objective
The All of Us Research Program (All of Us) aims to recruit over a million participants to further precision medicine. Essential to the verification of biobanks is a replication of known associations to establish validity. Here, we evaluated how well All of Us data replicated known cigarette smoking associations.

Materials and Methods
We defined smoking exposure as follows: (1) an EHR Smoking exposure that used International Classification of Disease codes; (2) participant provided information (PPI) Ever Smoking; and, (3) PPI Current Smoking, both from the lifestyle survey. We performed a phenome-wide association study (PheWAS) for each smoking exposure measurement type. For each, we compared the effect sizes derived from the PheWAS to published meta-analyses that studied cigarette smoking from PubMed. We defined two levels of replication of meta-analyses: (1) nominally replicated: which required agreement of direction of effect size, and (2) fully replicated: which required overlap of confidence intervals.

Results
PheWASes with EHR Smoking, PPI Ever Smoking, and PPI Current Smoking revealed 736, 492, and 639 phenome-wide significant associations, respectively. We identified 165 meta-analyses representing 99 distinct phenotypes that could be matched to EHR phenotypes. At P &lt; .05, 74 were nominally replicated and 55 were fully replicated. At P &lt; 2.68 × 10−5 (Bonferroni threshold), 58 were nominally replicated and 40 were fully replicated.

Discussion
Most phenotypes found in published meta-analyses associated with smoking were nominally replicated in All of Us. Both survey and EHR definitions for smoking produced similar results.

Conclusion
This study demonstrated the feasibility of studying common exposures using All of Us data.
Petrophysical properties identification and estimation of the Wufeng-Longmaxi shale gas reservoirs: a case study from South-West China
Authors: Kablan Or Aimon Brou Koffi , Chen Tongjun 
Published: October 2023

AbstractPetrophysical properties are critical for shale gas reservoir characterization and simulation. The Wufeng-Longmaxi shale, in the south-eastern margin of the Sichuan Basin, is identified as a complex reservoir due to its variability in lithification and geological mechanisms. Thus, determining its characteristics is challenging. Based on wireline logs and pressure data analysis, a shale reservoir was identified, and petrophysical properties were described to obtain parameters to build a reservoir simulation model. The properties include shale volume, sand porosity, net reservoir thickness, total and effective porosities, and water saturation. Total and effective porosities were calculated using density method. Shale volume was estimated by applying the Clavier equation to gamma-ray responses. Sand porosity and net reservoir thickness were evaluated using the Thomas–Stieber model, and the Simandoux equation was used to compute water saturation. The results indicate that the reservoir is characterized by a relatively low porosity and high shale content, with shale unequally distributed in its laminated form (approximately 75%), dispersed (about 20%), and structural form (5%). This research workflow can efficiently evaluate shale reservoir parameters and provide a reliable approach for future reservoir development and fracture identification.
Imaging plant metabolism in situ
Authors: Horn Patrick J , Chapman Kent D 
Published: October 2023

Abstract
Mass spectrometry imaging (MSI) has emerged as an invaluable analytical technique for investigating the spatial distribution of molecules within biological systems. In the realm of plant science, MSI is increasingly employed to explore metabolic processes across a wide array of plant tissues, including those in leaves, fruits, stems, roots, and seeds, spanning various plant systems such as model species, staple and energy crops, and medicinal plants. By generating spatial maps of metabolites, MSI has elucidated the distribution patterns of diverse metabolites and phytochemicals, encompassing lipids, carbohydrates, amino acids, organic acids, phenolics, terpenes, alkaloids, vitamins, pigments, and others, thereby providing insights into their metabolic pathways and functional roles. In this review, we present recent MSI studies that demonstrate the advances made in visualizing the plant spatial metabolome. Moreover, we emphasize the technical progress that enhances the identification and interpretation of spatial metabolite maps. Within a mere decade since the inception of plant MSI studies, this robust technology is poised to continue as a vital tool for tackling complex challenges in plant metabolism.
Histone deacetylase 9 interacts with SiHAT3.1 and SiHDA19 to repress dehydration responses through H3K9 deacetylation in foxtail millet
Authors: Kumar Verandra , Singh Babita , Kumar Singh Roshan , Sharma Namisha , Muthamilarasan Mehanathan , Sawant Samir V , Prasad Manoj 
Published: October 2023

Abstract
Climate change inflicts several stresses on plants, of which dehydration stress severely affects growth and productivity. C4 plants possess better adaptability to dehydration stress; however, the role of epigenetic modifications underlying this trait is unclear. In particular, the molecular links between histone modifiers and their regulation remain elusive. In this study, genome-wide H3K9 acetylation (H3K9ac) enrichment using ChIP-sequencing was performed in two foxtail millet cultivars with contrasting dehydration tolerances (IC403579, cv. IC4—tolerant, and IC480117, cv. IC41—sensitive). It revealed that a histone deacetylase, SiHDA9, was significantly up-regulated in the sensitive cultivar. Further characterization indicated that SiHDA9 interacts with SiHAT3.1 and SiHDA19 to form a repressor complex. SiHDA9 might be recruited through the SiHAT3.1 recognition sequence onto the upstream of dehydration-responsive genes to decrease H3K9 acetylation levels. The silencing of SiHDA9 resulted in the up-regulation of crucial genes, namely, SiRAB18, SiRAP2.4, SiP5CS2, SiRD22, SiPIP1;4, and SiLHCB2.3, which imparted dehydration tolerance in the sensitive cultivar (IC41). Overall, the study provides mechanistic insights into SiHDA9-mediated regulation of dehydration stress response in foxtail millet.