bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Alzheimer’s disease associated with heterozygousNPC1mutation
Authors: Lopergolo Diego , Bianchi Silvia , Gallus Gian Nicola , Locci Sara , Pucci Barbara , Leoni Valerio , Gasparini Daniele , Tardelli Elisa , Chincarini Andrea , Sestini Stelvio , Santorelli Filippo Maria , Zetterberg Henrik , De Stefano Nicola , Mignarri Andrea 
Published: November 2023

IntroductionNPC1mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygousNPC1mutations may rarely show parkinsonism or dementia. Here, we describe for the first time a large family with an apparently autosomal dominant late-onset Alzheimer’s disease (AD) harbouring a novel heterozygousNPC1mutation.MethodsAll the five living siblings belonging to the family were evaluated. We performed clinical evaluation, neuropsychological tests, assessment of cerebrospinal fluid markers of amyloid deposition, tau pathology and neurodegeneration (ATN), structural neuroimaging and brain amyloid-positron emission tomography. Oxysterol serum levels were also tested. A wide next-generation sequencing panel of genes associated with neurodegenerative diseases and a whole exome sequencing analysis were performed.ResultsWe detected the novel heterozygous c.3034G>T (p.Gly1012Cys) mutation inNPC1, shared by all the siblings. No other point mutations or deletions inNPC1orNPC2were found. In four siblings, a diagnosis of late-onset AD was defined according to clinical characterisation and ATN biomarkers (A+, T+, N+) and serum oxysterol analysis showed increased 7-ketocholesterol and cholestane-3β,5α,6β-triol.DiscussionWe describe a novelNPC1heterozygous mutation harboured by different members of a family with autosomal dominant late-onset amnesic AD without NPC-associated features. A missense mutation in homozygous state in the same aminoacidic position has been previously reported in a patient with NPC with severe phenotype. The alteration of serum oxysterols in our family corroborates the pathogenic role of ourNPC1mutation. Our work, illustrating clinical and biochemical disease hallmarks associated withNPC1heterozygosity in patients affected by AD, provides relevant insights into the pathogenetic mechanisms underlying this possible novel association.
Predictive value of retinal atrophy for cognitive decline across disease duration in multiple sclerosis
Authors: Alba-Arbalat Salut , Solana Elisabeth , Lopez-Soley Elisabet , Camos-Carreras Anna , Martinez-Heras Eloy , Vivó Francesc , Pulido-Valdeolivas Irene , Andorra Magi , Sepulveda Maria , Cabrera Jose María , Fonseca Elianet , Calvi Alberto , Alcubierre Rafel , Dotti-Boada Marina , Saiz Albert , Martinez-Lapiscina Elena H , Villoslada Pablo , Blanco Yolanda , Sanchez-Dalmau Bernardo , Llufriu Sara 
Published: November 2023

BackgroundWe investigated the association between changes in retinal thickness and cognition in people with MS (PwMS), exploring the predictive value of optical coherence tomography (OCT) markers of neuroaxonal damage for global cognitive decline at different periods of disease.MethodWe quantified the peripapillary retinal nerve fibre (pRFNL) and ganglion cell-inner plexiform (GCIPL) layers thicknesses of 207 PwMS and performed neuropsychological evaluations. The cohort was divided based on disease duration (≤5 years or >5 years). We studied associations between changes in OCT and cognition over time, and assessed the risk of cognitive decline of a pRFNL≤88 µm or GCIPL≤77 µm and its predictive value.ResultsChanges in pRFNL and GCIPL thickness over 3.2 years were associated with evolution of cognitive scores, in the entire cohort and in patients with more than 5 years of disease (p<0.01). Changes in cognition were related to less use of disease-modifying drugs, but not OCT metrics in PwMS within 5 years of onset. A pRFNL≤88 µm was associated with earlier cognitive disability (3.7 vs 9.9 years) and higher risk of cognitive deterioration (HR=1.64, p=0.022). A GCIPL≤77 µm was not associated with a higher risk of cognitive decline, but a trend was observed at ≤91.5 µm in PwMS with longer disease (HR=1.81, p=0.061).ConclusionsThe progressive retinal thinning is related to cognitive decline, indicating that cognitive dysfunction is a late manifestation of accumulated neuroaxonal damage. Quantifying the pRFNL aids in identifying individuals at risk of cognitive dysfunction.
Radiographic cervical spine injury patterns in admitted blunt trauma patients with and without prehospital spinal motion restriction
Authors: Jao Susan , Wang Zhe , Mukhi Ambika , Chaudhary Neeta , Martin Jonathan , Yuan Victoria , Laskowski Robert , Huang Emily , Vosswinkel James , Singer Adam J , Jawa Randeep 
Published: November 2023

ObjectivesSelective prehospital cervical spine motion restriction (C-SMR) following blunt trauma has increasingly been used by emergency medical service (EMS) providers. We determined rates of prehospital C-SMR and concomitant radiographic injury patterns.MethodsA retrospective trauma registry and chart review was conducted for all adult blunt trauma patients who were transported by EMS and hospitalized with radiographic cervical spine injuries from 2011 to 2019 at a level 1 trauma center.ResultsOf 658 admitted blunt trauma patients with confirmed cervical spine injury by imaging, 117 (17.8%) did not receive prehospital C-SMR. Patients without prehospital C-SMR were significantly older (76 vs 54 years), more often had low fall as mechanism of injury (59.8% vs 15.9%) and had lower Injury Severity Score (10 vs 17). Patients without C-SMR (Non-SMR) experienced the full array of cervical spine injury types and locations. While the non-SMR patients most often had dens fractures,C-SMR patients most often had C7 fractures; frequencies of fractures at the remaining vertebral levels were comparable. On MRI, cervical spinal cord (8.5% vs 19.6%) and ligamentous injuries (5.1% vs 12.6%) occurred less often in non-SMR patients. Approximately 8.5% of non-SMR patients and 20% of C-SMR patients required cervical spine surgery.ConclusionPatients without prehospital C-SMR demonstrate a broad array of cervical spine injuries. While the rates of certain cervical injuries are lower in prehospital non-SMR patients, they are not insignificant.Level of evidenceLevel III.
NMR characterization of novel interactions between p97 AAA+ ATPase and the p47 adaptor revealing insights into substrate delivery mechanism
Authors: Kim Peter , Black Megan , Perez Felipe , Huang Rui 
Published: November 2023

p97/VCP is an essential AAA+ ATPase involved in diverse cellular activities by interacting with an array of protein adaptors that recruit p97 for specific tasks. p47 is one of the adaptors that targets p97 for membrane remodeling by forming a stable complex with p97 through multivalent interactions. Here, we report a pair of previously unidentified interactions between the N-terminal part of p47 (residues 1–94) and the N-terminal domain (NTD) of p97. Using nuclear magnetic resonance (NMR) spectroscopy, we identify two binding sites on p47, one located on the ubiquitin-associated (UBA) domain and the other on the intrinsically disordered linker, that interact with the same basic patch on p97 NTD, driven by electrostatic forces. Reciprocal NMR titration experiments between p47 (residues 1–94) and p97 NTD reveal that these interactions are relatively weak in nature with dissociation constants on the order of hundreds of micromolar to millimolar in trans. Structural models of the two interactions are developed based on NMR chemical shift perturbations, which reveal details of the tentative binding interfaces. Our findings provide new insights into the mechanism by which ubiquitinated substrates are delivered from p47 to p97 for unfolding.
Charge Correlations in Cuprate Superconductors
Authors: Hayden Stephen M. , Tranquada John M. 
Published: November 2023

High-temperature superconductivity, with transition temperatures up to ≈134 K at ambient pressure, occurs in layered cuprate compounds. The conducting CuO2 planes, which are universally present, are responsible for the superconductivity but also show a disposition to other competing states including spin and charge order. Charge-density-wave (CDW) order appears to be a universal property of cuprate superconductors. It has been studied via a multitude of probes including X-ray and neutron scattering, nuclear magnetic resonance, scanning probe techniques, electronic transport, and quantum oscillations. Here, we review the microscopic properties of the CDW order. We discuss the nature of the ordered state, that is, its symmetry and microscopic structure. Furthermore, we show how the CDW order is related to quenched disorder, host structure, symmetry breaking perturbations, and magnetic fields. We also describe measurements of dynamic collective charge excitations that are closely related to the quasi-static CDW order. Finally, we highlight some of the debated issues in the field, including the origin of the CDW order, the relationship to spin order, and the nature of the spatial CDW correlations.
Thermal Analysis on Kerosene Oil-Based Two Groups of Ternary Hybrid Nanoparticles (CNT-Gr-Fe3O4 and MgO-Cu-Au) Mix Flow over a Bidirectional Stretching Sheet: A Comparative Approach
Authors: Choudhary Shilpa , Mehta Ruchika , Alessa Nazek , Jangid Sanju , Venkateswar Reddy M. 
Published: November 2023

The present work examines the impressions of radiation impact on the three-dimensional non-Newtonian MHD Casson flow of ternary hybrid nanofluids over a symmetrical stretching sheet with magnetic impression and heat generation/absorption. The unique boost in thermal efficiency and development of the rate of heat transport as valid to the dynamics of energy and coolant in automobiles is what has led to an increase in knowledge of hybrid nanofluid. For the study, two groups of ternary nanoparticles (CNT-Gr-Fe3O4 and MgO-Cu-Au) are combined with the base fluid kerosene oil. A nonlinear partial differential equation system is created while keeping in mind some reasonable presumptions. Using the similarities transformation, PDE’s are changed into nonlinear ODE’s. Also, it is then mathematically simplified with the bvp4c technique. The consequences of an exclusive group of unique impacts on motion characteristics, skin friction coefficient, thermal field impressions, heat transport rate, concentration distribution, and mass transfer rate are described clearly. The motion in the x and y directions decays with increasing the Casson fluid parameter

0.04
≤
β
≤
0.06

and magnetic impact

6

≤
M
≤

10

for ternary groups I and II. An energy upsurge profile appears for radiation impression (1

≤

Nr

≤

20) and heat source/sink (0.1

≤

Q

≤

1.5). When compared to rising Dufour number (0.1

≤

Du

≤

0.9) and heat source/sink values (0.1

≤

Q

≤

1.5), the Nusselt number decreases. The volume fraction

0.1

≤

ϕ
≤

0.3

of ternary nanoparticles rises the velocity (in both directions) and thermal distributions. Also, the Nusselt number enhances for both ternary groups when increasing thermal radiation (1

≤

Nr

≤

20).
Remnant Cholesterol in Young Adulthood Is Associated With Left Ventricular Remodeling and Dysfunction in Middle Age: The CARDIA Study
Authors: Xu Xinghao , Wang Zhaoyan , Huang Rihua , Guo Yue , Xiong Zhenyu , Zhuang Xiaodong , Liao Xinxue 
Published: November 2023

BACKGROUND:
Recent studies have shown that remnant cholesterol (RC) is associated with incident heart failure; however, its association with left ventricular (LV) structure and function is unclear. We aimed to evaluate the association between RC levels in young adulthood and LV structure and function in middle age.

METHODS:
We included 3321 participants from the CARDIA study (Coronary Artery Risk Development in Young Adults) at baseline. RC was calculated as total cholesterol minus high-density lipoprotein cholesterol minus calculated low-density lipoprotein cholesterol, and the RC trajectories that followed a similar pattern of change over time were identified using the latent class growth mixture model. LV structure and function were assessed using echocardiography at CARDIA study year 25. Multivariable linear regression models were performed to assess the associations of both baseline and trajectories of RC levels with LV structure and function.

RESULTS:

Among 3321 participants, the mean age was 24.99±3.62 years: 1450 (43.90%) were male, and 1561 (47.00%) were Black. After multivariate adjustment, higher baseline RC (per SD in log-transformed) was associated with higher LV mass index (β=1.29;
P
=0.004), worse global longitudinal strain (β=0.19;
P
<0.001), worse global circumferential strain (β=0.16;
P
=0.014), lower septal e′ (β=−0.26;
P
<0.001), lower lateral e′ (β=−0.18;
P
=0.003), and higher E/e′ (β=0.15;
P
=0.003). Three RC trajectories were identified during follow-up: low increasing (42.4%), moderate increasing (45.5%), and high increasing (12.1%). Similarly, compared with the low-increasing group, the high-increasing RC trajectory group was related to higher LV mass index, worse global longitudinal strain, lower septal e′, lower lateral e′, and higher E/e′.

CONCLUSIONS:
Elevated RC levels in young adulthood were related to adverse LV structural and functional alterations in midlife. Long-term trajectories of RC levels during young adulthood help identify individuals at a higher risk for adverse LV remodeling and dysfunction.

Registration:

URL:
https://www.clinicaltrials.gov
; Unique identifier: NCT00005130.
The Dynamics of Social Interaction Among Evolved Model Agents
Authors: Merritt Haily , Severino Gabriel J. , Izquierdo Eduardo J. 
Published: November 2023

Abstract
We offer three advances to the perceptual crossing simulation studies, which are aimed at challenging methodological individualism in the analysis of social cognition. First, we evolve and systematically test agents in rigorous conditions, identifying a set of 26 “robust circuits” with consistently high and generalizing performance. Next, we transform the sensor from discrete to continuous, facilitating a bifurcation analysis of the dynamics that shows that nonequilibrium dynamics are key to the mutual maintenance of interaction. Finally, we examine agents’ performance with partners whose neural controllers are different from their own and with decoy objects of fixed frequency and amplitude. Nonclonal performance varies and is not predicted by genotypic distance. Frequency-amplitude values that fool the focal agent do not include the agent’s own values. Altogether, our findings accentuate the importance of dynamical and nonclonal analyses for simulated sociality, emphasize the role of dialogue between artificial and human studies, and highlight the contributions of simulation studies to understanding social interactions.
Tracking Components of Bilingual Language Control in Speech Production: An fMRI Study Using Functional Localizers
Authors: Wolna Agata , Szewczyk Jakub , Diaz Michele , Domagalik Aleksandra , Szwed Marcin , Wodniecka Zofia 
Published: November 2023

Abstract
When bilingual speakers switch back to speaking in their native language (L1) after having used their second language (L2), they often experience difficulty in retrieving words in their L1. This phenomenon is referred to as the L2 after-effect. We used the L2 after-effect as a lens to explore the neural bases of bilingual language control mechanisms. Our goal was twofold: first, to explore whether bilingual language control draws on domain-general or language-specific mechanisms; second, to investigate the precise mechanism(s) that drive the L2 after-effect. We used a precision fMRI approach based on functional localizers to measure the extent to which the brain activity that reflects the L2 after-effect overlaps with the language network (Fedorenko et al., 2010) and the domain-general multiple demand network (Duncan, 2010), as well as three task-specific networks that tap into interference resolution, lexical retrieval, and articulation. Forty-two Polish–English bilinguals participated in the study. Our results show that the L2 after-effect reflects increased engagement of domain-general but not language-specific resources. Furthermore, contrary to previously proposed interpretations, we did not find evidence that the effect reflects increased difficulty related to lexical access, articulation, and the resolution of lexical interference. We propose that difficulty of speech production in the picture naming paradigm—manifested as the L2 after-effect—reflects interference at a nonlinguistic level of task schemas or a general increase of cognitive control engagement during speech production in L1 after L2.
Waking up Bats, Hazing Wolves and Draining Snake Lakes – Exploring the EU Habitats Directive’s Prohibition of “Deliberate Disturbance”
Authors: Trouwborst Arie 
Published: November 2023

Abstract
The Habitats Directive requires EU member states to prohibit the “deliberate disturbance” of mammals, reptiles, amphibians, fish and invertebrates belonging to species listed in its Annex iv. Through analysis of legislation, case law, guidance documents and practical examples, this article explores the question what types of activities, under what conditions, constitute such deliberate disturbance. The analysis shows that, even if some question marks concerning the disturbance prohibition’s scope remain, many of the prohibition’s implications have by now been clarified by the EU Court of Justice. These implications appear to be of considerable practical importance.
The Regional Energy and Climate Governance: Prospects for Energy Community Contracting Parties in the Aftermath of the European Green Deal
Authors: Samkharadze Irakli 
Published: November 2023

Abstract
All research begins with questions, so here are three: (1) How does the European Green Deal, as a revamped growth strategy of the European Union, foster energy and climate governance in Southeast Europe? (2) What are the key legal instruments and their characteristics of a potential regionalisation of energy and climate governance in the Energy Community Contracting Parties? And (3), to what extent do extra factors of the Green Deal-related legislation expediate the development of a framework for such regional energy and climate governance? Tackling these questions, the research first conceptualizes the Green Deal by unveiling its ‘just transition’ dimension and legal implementation structures. Upon identifying EU’s ex post Green Deal external energy and climate competence, the paper further examines stringency of EU energy and climate governance mechanisms within the Energy Community. In doing so, it gauges the insights of the Governance Regulation and provides the rationale of soft instruments of network cooperation in the areas where blackletter law is somewhat cryptic and complex. Finally, this article outlines the perspectives for future research specifically focusing on the policy fields arising from the EU’s Fit-for-55 package.
Air Pollution Crisis Across Europe: The European Courts, the Governments, the Citizens and the Persistent Ineffectiveness of EU Law
Authors: Pouikli Kleoniki , Tsoukala Ariti 
Published: November 2023

Abstract
Air pollution stands among the most serious environmental problems across Europe leading to grave negative health impacts and numerous premature deaths. Poor air quality has been subject to a comprehensive regulatory framework at EU level since mid-eighties. However, its implementation is still fraught with significant systematic and consistent difficulties. Against this backdrop, after a brief presentation of the main enforcement challenges of the current EU air quality legislative regime, emphasis will be placed on the latest policy and legislative developments in the field, which aspire to tackle the existing ineffectiveness and enforcement gaps. Next, the spotlight will be focused on the air pollution crisis through the lens of human rights, in the wake of the recent judgment by the ECtHR Pavlov and Others v. Russia. Lastly, an attempt will be made to approach the concept of citizen science mechanisms as a possibly useful toolbox to address air pollution crisis.
The EU Just Transition Concept and Its Application in the Case of the Just Transition Mechanism
Authors: Karageorgou Vasiliki (Vicky) 
Published: November 2023

Abstract
The aim of the article is to delve into the question of how the just transition concept that is mainly implemented by the jtm, is determined at the EU level and which are its specific characteristics. The article analyses the concept of just transition and its relation to the concepts that address the social justice implications of the environmental, energy and climate policies. Αdditionally, it examines how certain elements of the concept are incorporated in certain EU Key Strategic Documents. The Just Transition Mechanism is analysed in light of the specific criteria of the just transition concept. The main message is that the EU has adopted a rather limited approach in regard to the determination of the regulative elements of the “just transition” concept and that there is a need for a systematic consideration of the social implications of the EU Decarbonisation and Environmental Policies in their whole spectrum.
Before the War: Orthodox Christians in Anatolia, 1880s–1914
Authors: Ozil Ayşe 
Published: November 2023

Abstract
Orthodox Christians in Anatolia engaged in a widespread effort to establish churches, schools, and cultural associations in the late Ottoman period. This effort lasted roughly from the 1880s until the Great War, marking these few decades in the late 19th and early 20th centuries as a period of intense institutionalization. This article historicizes the Orthodox Christian presence in Anatolia by exploring the moment of emergence of modern institutions, which would later provide our most direct and visual knowledge (real or remembered) of Orthodox Christian communities in the Ottoman Empire. Focusing on a diverse range of local, imperial and international actors in provincial space in western Anatolia, the study delineates the contexts and processes of institutionalization. It shows a modern community in the making, and demonstrates how Orthodox Christians consolidated themselves before being forced to leave as a result of the Greek-Turkish War of 1919–22 and the ensuing population exchange.
An Ephemeral State on the Enduring Steppe
Authors: Taupier Richard 
Published: November 2023

Abstract
Baroun Tala, or the Khoshoud Khanate, was the first of three khanates created by the Oirat Mongols of the seventeenth century (1642), followed by the Jöüngar (1678) and Kalmyk Khanates (1681). It rose at a time when the two most powerful noble Oirat lineages, the Choros and Khoshoud, were close allies. The Khoshoud ruled in Kükünour and Tibet from 1642 to 1720, some 78 years. That history is summarised herein. The Khoshoud alliance with the Jöüngars (ruled by the Choros) ended in 1676 when Choros Galdan Boshugtu defeated the Khoshoud Chechen Khan and scattered his people. The Khoshoud Khanate was tied to the Fifth Dalai Lama and the centralisation of governance that occurred under his newly established political authority. The end of the Khoshoud Khanate is linked to the demise of the Sixth Dalai Lama, their failed alliance with the Jöüngars and ultimate capitulation to the Qing.