julilili42/papers huggingface dataset:
Effects of low energy availability on performance in male athletes: A scoping review
2024-10-30

Current evidence shows heterogeneous results, as some studies suggested improvements in certain performance parameters, whilst other studies showed neutral or detrimental effects of low energy availability. Due to the limitations mentioned; additional research is warranted for a more comprehensive understanding.
Capturing longitudinal change in cerebellar ataxia: Context-sensitive analysis of real-life walking increases patient relevance and effect size
2024-10-30

Abstract OBJECTIVES With disease-modifying drugs for degenerative ataxias on the horizon, ecologically valid measures of motor performance that can detect patient-relevant changes in short, trial-like time frames are highly warranted. In this 2-year longitudinal study, we aimed to unravel and evaluate measures of ataxic gait which are sensitive to longitudinal changes in patients’ real life by using wearable sensors. METHODS We assessed longitudinal gait changes of 26 participants with degenerative cerebellar disease (SARA:9.4±4.1) at baseline, 1-year and 2-year follow-up assessment using 3 body-worn inertial sensors in two conditions: (1) laboratory-based walking (LBW); (2) real-life walking (RLW) during everyday living. In the RLW condition, a context-sensitive analysis was performed by selecting comparable walking bouts according to macroscopic gait characteristics, namely bout length and number of turns within a two-minute time interval. Movement analysis focussed on measures of spatio-temporal variability, in particular stride length variability, lateral step deviation, and a compound measure of spatial variability ( SPCmp ). RESULTS Gait variability measures showed high test-retest reliability in both walking conditions (ICC &gt; 0.82). Cross-sectional analyses revealed high correlations of gait measures with ataxia severity (SARA, effect size ρ≥0.75); and in particular with patients’ subjective balance confidence (ABC score, ρ≥0.71), here achieving higher effect sizes for real-life than lab-based gait measures (e.g. SPCmp : RLW ρ=0.81 vs LBW ρ=0.71). While the clinician-reported outcome SARA showed longitudinal changes only after two years, the gait measure SPCmp revealed changes already after one year with high effect size (r prb =0.80). In the subgroup with spinocerebellar ataxia type 1, 2 or 3 (SCA1/2/3), the effect size was even higher (r prb =0.86). Based on these effect sizes, sample size estimation for the gait measure SPCmp showed a required cohort size of n=42 participants (n=38 for SCA 1/2/3 subgroup) for detecting a 50% reduction of natural progression after one year by a hypothetical intervention, compared to n=254 for the SARA. CONCLUSIONS Gait variability measures revealed high reliability and sensitivity to longitudinal change in both laboratory-based constrained walking as well as in real-life walking. Due to their ecological validity and larger effect sizes, characteristics of real-life gait recordings are promising motor performance measures as outcomes for future treatment trials.
Perivascular space enlargement accelerates in ageing and Alzheimer’s disease pathology: evidence from a three-year longitudinal multicentre study
2024-10-31

Abstract Background Perivascular space (PVS) enlargement in ageing and Alzheimer’s disease (AD) and the drivers of such a structural change in humans require longitudinal investigation. Elucidating the effects of demographic factors, hypertension, cerebrovascular dysfunction, and AD pathology on PVS dynamics could inform the role of PVS in brain health function as well as the complex pathophysiology of AD. Methods We studied PVS in centrum semiovale (CSO) and basal ganglia (BG) computationally over three to four annual visits in 503 participants (255 females; mean age = 70.78 ± 5.78) of the ongoing observational multicentre “DZNE Longitudinal Cognitive Impairment and Dementia Study” (DELCODE) cohort. We analysed data from subjects who were cognitively unimpaired ( n = 401), had amnestic mild cognitive impairment ( n = 71), or had AD ( n = 31). We used linear mixed-effects modelling to test for changes of PVS volumes in relation to cross-sectional and longitudinal age, as well as sex, years of education, hypertension, white matter hyperintensities, AD diagnosis, and cerebrospinal-fluid-derived amyloid (A) and tau (T) status (available for 46.71%; A-T-/A + T-/A + T + n = 143/48/39). Results PVS volumes increased significantly over follow-ups (CSO: B = 0.03 [0.02, 0.05], p &lt; 0.001; BG: B = 0.05 [0.03, 0.07], p &lt; 0.001). PVS enlargement rates varied substantially across subjects and depended on the participant’s age, white matter hyperintensities volumes, and amyloid and tau status. PVS volumes were higher across elderly participants, regardless of region of interest (CSO: B = 0.12 [0.02, 0.21], p = 0.017; BG: B = 0.19 [0.09, 0.28], p &lt; 0.001). Faster BG-PVS enlargement related to lower baseline white matter hyperintensities volumes ( ρ spearman = -0.17, p FDR = 0.001) and was more pronounced in individuals who presented with combined amyloid and tau positivity versus negativity (A + T + &gt; A-T-, p FDR = 0.004) or who were amyloid positive but tau negative (A + T + &gt; A + T-, p FDR = 0.07). CSO-PVS volumes increased at a faster rate with amyloid positivity as compared to amyloid negativity (A + T-/A + T + &gt; A-T-, p FDR = 0.021). Conclusion Our longitudinal evidence supports the relevance of PVS enlargement in presumably healthy ageing as well as in AD pathology. We further discuss the region-specific involvement of white matter hyperintensities and neurotoxic waste accumulation in PVS enlargement and the possibility of additional factors contributing to PVS progression. A comprehensive understanding of PVS dynamics could facilitate the understanding of pathological cascades and might inform targeted treatment strategies. Trial registration German Clinical Trials Register DRKS00007966. Registered 04.05.2015 – retrospectively registered, https://drks.de/search/en/trial/DRKS00007966 .
Heavy-Metal Ions Control on PFAS Adsorption on Goethite in Aquatic Systems
2024-10-31

Per- and polyfluoroalkyl substances (PFAS) are ubiquitous environmental contaminants that often co-occur with heavy metals. Despite their prevalence, the mobility of PFAS in complex, multicomponent systems, particularly at the molecular scale, remains poorly understood. The vast diversity of PFAS and their low concentrations alongside anthropogenic and natural substances underscore the need for integrating mechanistic insights into the sorption models. This study explores the influence of metal cations (Cu(II), Cd(II), and Fe(II)) on the adsorption of four common PFAS (PFOA, PFOS, PFDA, and GenX) onto goethite (α-FeOOH), a common iron (oxyhydr)oxide in both aquatic and terrestrial environments. PFAS adsorption was highly dependent on the PFAS type, pH, and metal ion concentration, with a surface complexation model effectively predicting these interactions. Cu(II) and Cd(II) enhanced PFOS and PFDA adsorption via ternary complexation while slightly reducing PFOA and GenX adsorption. Under anoxic conditions, Fe(II) significantly increased the adsorption of all PFAS, showing reactivity greater than those of Cu(II) and Cd(II). Additionally, natural organic matter increased PFAS mobility, although metal cations in groundwater may counteract this by enhancing PFAS retention. These findings highlight the key role of metal cations in PFAS transport and offer critical insights for predicting PFAS behavior at oxic-anoxic environmental interfaces.
Brain malformations and seizures by impaired chaperonin function of TRiC
2024-10-31

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, and we identify variants in seven of its eight subunits, all of which impair function or assembly through different mechanisms. Transcriptome and proteome analyses of patient-derived fibroblasts demonstrate the various consequences of TRiC impairment. The results reveal an unexpected and potentially widespread role for protein folding in the development of the central nervous system and define a disease spectrum of “TRiCopathies.”
Patient iPSC-derived neural progenitor cells display aberrant cell cycle control, p53, and DNA damage response protein expression in schizophrenia
2024-10-31

Abstract Background Schizophrenia (SCZ) is a severe psychiatric disorder associated with alterations in early brain development. Details of underlying pathomechanisms remain unclear, despite genome and transcriptome studies providing evidence for aberrant cellular phenotypes and pathway deregulation in developing neuronal cells. However, mechanistic insight at the protein level is limited. Methods Here, we investigate SCZ-specific protein expression signatures of neuronal progenitor cells (NPC) derived from patient iPSC in comparison to healthy controls using high-throughput Western Blotting (DigiWest) in a targeted proteomics approach. Results SCZ neural progenitors displayed altered expression and phosphorylation patterns related to Wnt and MAPK signaling, protein synthesis, cell cycle regulation and DNA damage response. Consistent with impaired cell cycle control, SCZ NPCs also showed accumulation in the G2/M cell phase and reduced differentiation capacity. Furthermore, we correlated these findings with elevated p53 expression and phosphorylation levels in SCZ patient-derived cells, indicating a potential implication of p53 in hampering cell cycle progression and efficient neurodevelopment in SCZ. Conclusions Through targeted proteomics we demonstrate that SCZ NPC display coherent mechanistic alterations in regulation of DNA damage response, cell cycle control and p53 expression. These findings highlight the suitability of iPSC-based approaches for modeling psychiatric disorders and contribute to a better understanding of the disease mechanisms underlying SCZ, particularly during early development.
Fluorescence Modulation through the Inverted Energy Gap Law in Triply N−B←N‐Containing Windmill‐Shaped Triazines
2024-10-31

Abstract A series of windmill‐shape heterocyclic molecules containing three N−B←N units, TBN and its derivatives, with quasi‐planar C 3 symmetric backbone, are synthesized. The parent TBN exhibits a strongly allowed, doubly degenerate lowest excited state but suffers from very low fluorescence, due to very fast nonradiative decay rate through a conical intersection (CI) as revealed by femtosecond transient absorption spectroscopy and quantum‐chemical calculations. Introducing peripheral phenyl‐ or thienyl‐groups (Ph‐TBN or Th‐TBN) induces pronounced bathochromic shifts and enhances fluorescence, which is beneficial from inhibited nonradiative pathway by the increased energy barriers to access the CI at excited state. The understanding of this rather uncommon behaviour may open routes for the design of novel fluorescence materials.
STAR LIGHT Study: XBB.1.5 COVID-19 mRNA Vaccines Boost Systemic but Not Mucosal Immunity Against the SARS-CoV-2 JN.1 Variant in Patients with Chronic Liver Disease
2024-10-31

Background: Patients with chronic liver disease (CLD) have impaired vaccine immunogenicity and an excess risk of severe COVID-19. While variant-adapted COVID-19 mRNA vaccines are recommended for vulnerable individuals, their efficacy in patients with CLD has not been studied. Methods: We present the first evaluation of XBB.1.5 COVID-19 vaccine immunogenicity against the SARS-CoV-2 JN.1 variant in patients with CLD. Serum anti-receptor binding domain (RBD) IgG, neutralization, and saliva anti-RBD IgG and IgA against wild-type SARS-CoV-2 (WT) and the XBB.1.5, EG.5.1, BA.2.86, and JN.1 variants were quantified before and 2–4 weeks following a fourth dose of XBB.1.5 mRNA vaccines. Results: Vaccination boosted anti-RBD IgG and neutralization against all tested variants including JN.1 (each p &lt; 0.001). Following immunization, neutralization was lower against JN.1 compared to WT, XBB.1.5, and EG.5.1 (p &lt; 0.001, p &lt; 0.001, and p &lt; 0.01, respectively). Vaccination reduced neutralization failure rates against BA.2.86 and JN.1 (each p &lt; 0.05). The evasion of vaccine-induced antibodies by the tested variants was low, indicated by the positive correlation between anti-RBD IgG and neutralization. At mucosal sites, vaccination boosted anti-RBD IgG (each p &lt; 0.01) but failed to induce infection-blocking IgA (each p &gt; 0.05). Conclusion: XBB.1.5 vaccines protect CLD patients against recent SARS-CoV-2 variants, but developing vaccines with optimized mucosal immunogenicity is required to prevent SARS-CoV-2 transmission and recurrent seasonal COVID-19 outbreaks.
Superior colliculus peri-saccadic field potentials are dominated by a visual sensory preference for the upper visual field
2024-10-31

Abstract The primate superior colliculus (SC) plays important sensory, cognitive, and motor processing roles. Among its properties, the SC has clear visual field asymmetries: visual responses are stronger in the upper visual field representation, whereas saccade-related motor bursts are weaker. Here, I asked whether peri-saccadic SC network activity can still reflect the SC’s visual sensitivity asymmetry, thus supporting recent evidence of sensory-related signals embedded within the SC’s motor bursts. I analyzed collicular peri-saccadic local field potential (LFP) modulations and found them to be much stronger in the upper visual field, despite the weaker motor bursts. This effect persisted even with saccades towards a blank, suggesting an importance of visual field location. I also found that engaging working memory during saccade preparation differentially modulated the SC’s LFP’s, again with a dichotomous upper/lower visual field asymmetry. I conclude that the SC network possesses a clear sensory signal at the time of saccade generation.
Structural influences on synaptic plasticity: The role of presynaptic connectivity in the emergence of E/I co-tuning
2024-10-31

Cortical neurons are versatile and efficient coding units that develop strong preferences for specific stimulus characteristics. The sharpness of tuning and coding efficiency is hypothesized to be controlled by delicately balanced excitation and inhibition. These observations suggest a need for detailed co-tuning of excitatory and inhibitory populations. Theoretical studies have demonstrated that a combination of plasticity rules can lead to the emergence of excitation/inhibition (E/I) co-tuning in neurons driven by independent, low-noise signals. However, cortical signals are typically noisy and originate from highly recurrent networks, generating correlations in the inputs. This raises questions about the ability of plasticity mechanisms to self-organize co-tuned connectivity in neurons receiving noisy, correlated inputs. Here, we study the emergence of input selectivity and weight co-tuning in a neuron receiving input from a recurrent network via plastic feedforward connections. We demonstrate that while strong noise levels destroy the emergence of co-tuning in the readout neuron, introducing specific structures in the non-plastic pre-synaptic connectivity can re-establish it by generating a favourable correlation structure in the population activity. We further show that structured recurrent connectivity can impact the statistics in fully plastic recurrent networks, driving the formation of co-tuning in neurons that do not receive direct input from other areas. Our findings indicate that the network dynamics created by simple, biologically plausible structural connectivity patterns can enhance the ability of synaptic plasticity to learn input-output relationships in higher brain areas.
AI-Based Anomaly Detection in Maritime Traffic
2024-10-31

<title>Abstract</title> The Automatic Identification System (AIS) plays a crucial part in delivering essential messages concerning maritime traffic. This paper provides a detailed analysis and review of maritime traffic &amp; AIS data systems; their importance and application domains. A detailed review of various techniques and approaches being used for Maritime Anomaly Detection (an important task in the field of maritime surveillance) has been made. Moreover, the emerging trends in use of Artificial Intelligence (AI), entailing both Machine Learning (ML) and Deep Learning (DL), have also been elaborated. Finally, we use the historical AIS dataset of the US Coastguard to reconstruct the trajectories of vessels and pro- pose Support Vector Regression (SVR), an advanced form of Support Vector Machine (SVM), for the searching anomaly within the data. 1
Network Bottlenecks and Task Structure Control the Evolution of Interpretable Learning Rules in a Foraging Agent
2024-10-31

Abstract Developing reliable mechanisms for continuous local learning is a central challenge faced by biological and artificial systems. Yet, how the environmental factors and structural constraints on the learning network influence the optimal plasticity mechanisms remains obscure even for simple settings. To elucidate these dependencies, we study meta-learning via evolutionary optimization of simple reward-modulated plasticity rules in embodied agents solving a foraging task. We show that unconstrained meta-learning leads to the emergence of diverse plasticity rules. However, regularization and bottlenecks in the model help reduce this variability, resulting in interpretable rules. Our findings indicate that the meta-learning of plasticity rules is very sensitive to various parameters, with this sensitivity possibly reflected in the learning rules found in biological networks. When included in models, these dependencies can be used to discover potential objective functions and details of biological learning via comparisons with experimental observations.
Sleep deprivation leads to non-adaptive alterations in sleep microarchitecture and amyloid-β accumulation in a murine Alzheimer model
2024-11-01

Impaired sleep is a common aspect of aging and often precedes the onset of Alzheimer's disease. Here, we compare the effects of sleep deprivation in young wild-type mice and their APP/PS1 littermates, a murine model of Alzheimer's disease. After 7 h of sleep deprivation, both genotypes exhibit an increase in EEG slow-wave activity. However, only the wild-type mice demonstrate an increase in the power of infraslow norepinephrine oscillations, which are characteristic of healthy non-rapid eye movement sleep. Notably, the APP/PS1 mice fail to enhance norepinephrine oscillations 24 h after sleep deprivation, coinciding with an accumulation of cerebral amyloid-β protein. Proteome analysis of cerebrospinal fluid and extracellular fluid further supports these findings by showing altered protein clearance in APP/PS1 mice. We propose that the suppression of infraslow norepinephrine oscillations following sleep deprivation contributes to increased vulnerability to sleep loss and heightens the risk of developing amyloid pathology in early stages of Alzheimer's disease.
GABAergic amacrine cells balance biased chromatic information in the mouse retina
2024-11-01

The retina extracts chromatic information present in an animal's environment. How this information is processed in the retina is not well understood. In the mouse, chromatic information is not collected equally throughout the retina. Green and UV signals are primarily detected in the dorsal and ventral retina, respectively. However, at the output of the retina, chromatic tuning is more mixed throughout the retina. This suggests that lateral processing by inhibitory amacrine cells shapes chromatic information at the retinal output. We systematically surveyed the chromatic responses of dendritic processes of the 40+ GABAergic amacrine cell types. We identified 25 functional types with distinct chromatic and achromatic properties. We used pharmacology and a biologically inspired deep learning model to explore how inhibition and excitation shape the properties of functional types. Our data suggest that amacrine cells balance the biased spectral tuning of excitation, thereby supporting diversity of chromatic information at the retinal output.
Tissue-colonizing disseminated tumor cells secrete prostaglandin E2 to promote NK cell dysfunction and evade anti-metastatic immunity
2024-11-01

Natural killer (NK) cells are critical for anti-metastatic immunity and can eliminate metastasizing tumor cells within circulation and sites of metastatic seeding. Here, we show that disseminated tumor cells (DTCs) colonizing the mouse lung secrete prostaglandin E2 (PGE<sub>2</sub>) to locally induce NK cell dysfunction, allowing outgrowing metastases to escape immune control and establish metastatic disease. Mechanistically, PGE<sub>2</sub> signaling through its receptors EP2 and EP4 mediates NK cell dysfunction, which leads to reprogramming of NK cell gene expression and results in impaired production of anti-metastatic cytokines. In human cancer patients, the PGE<sub>2</sub>-EP2/EP4 axis is associated with NK cell dysfunction within distant organ metastases. Disabling EP2/EP4 signaling in NK cells prevents their dysfunction in DTC-colonized lungs and achieves effective NK cell-mediated control of metastatic disease. Our findings reveal a suppressive signaling axis exploited by metastasizing tumor cells to escape immune control in distant organs that could be targeted for metastatic cancer therapy.
Magnetic Fabrics in Laminated Rocks of the Ilímaussaq Igneous Complex, Southern Greenland
2024-11-01

Abstract Nepheline syenites from the ∼1.2 Ga Ilímaussaq Complex of southern Greenland are examined to assess the utility of anisotropy of magnetic susceptibility (AMS) fabrics as proxies for silicate petrofabrics. Mineral lamination is a relatively common structural feature in cumulate rocks, including in the Ilímaussaq intrusion, but there is little consensus on the process (or processes) responsible for its formation. The Ilímaussaq AMS data are combined with rock magnetic experiments and electron backscatter diffraction (EBSD) measurements to characterize the magnetic mineralogy and compare the magnetic fabrics obtained to the silicate petrofabric. The data show that Na-amphibole (arfvedsonite) is most likely the dominant control on the AMS fabrics in the coarse-grained nepheline syenites (referred to as kakortokites), and that the AMS fabric is inverse relative to the observed silicate fabric. The EBSD data for a kakortokite sample suggests that the petrofabric is defined by arfvedsonite and is wholly planar, with evidence of only weak cross-lineation of c axes. The fine-grained nepheline syenites (lujavrites), two of which have a well-developed lamination carried by Na-pyroxene (aegirine), appear to have composite AMS fabrics that are considered to be a consequence of a mixed aegirine (normal) and arfvedsonite (inverse) response. The combined datasets shed light on the mechanisms of fabric acquisition in both lithologies. In the kakortokites, the AMS fabrics and silicate crystallographic preferred orientations, as well as the lack of observed microstructural evidence for subsolidus intra-crystal deformation, support models invoking gravitationally controlled crystal mats in the development of the macro-rhythmic layering of these rocks. In the lujavrites, the strong planar fabrics revealed by both the AMS and EBSD datasets, with some evidence of subsolidus deformation, point to fabric formation and perhaps even aegirine crystallization at the postcumulus stage. The combination of EBSD and AMS fabric datasets is a powerful means of deciphering the processes responsible for mineral alignment in igneous cumulates.